Canonical Allele Identifier: CA597904341

Gene: ABCC8

Linked Data

• dbSNP Id: rs1401732543
• gnomAD v2: 11-17449993-C-G
• gnomAD v3: 11-17428446-C-G
• gnomAD v4: 11-17428446-C-G
• MyVariant Identifiers: chr11:g.17449993C>G (hg19) ; chr11:g.17428446C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428446C>G , CM000673.2:g.17428446C>G	GRCh38
NC_000011.9:g.17449993C>G , CM000673.1:g.17449993C>G	GRCh37
NC_000011.8:g.17406569C>G	NCBI36
NG_008867.1:g.53457G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.1593-41G>C
ENST00000529967.6:n.142G>C
ENST00000642611.2:n.1990-41G>C
ENST00000682051.1:n.1937-41G>C
ENST00000682110.1:n.1990-41G>C
ENST00000682140.1:c.1921-41G>C	ENSP00000507829.1:n.1921-41G>C
ENST00000682185.1:n.3229-41G>C
ENST00000682204.1:c.*62-41G>C	ENSP00000507094.1:n.*62-41G>C
ENST00000682215.1:n.1990-41G>C
ENST00000682288.1:c.*352-41G>C	ENSP00000507506.1:n.*352-41G>C
ENST00000682442.1:n.2111-41G>C
ENST00000682528.1:n.1990-41G>C
ENST00000682673.1:n.1937-41G>C
ENST00000682805.1:n.1990-41G>C
ENST00000682965.1:c.1921-41G>C	ENSP00000508229.1:n.1921-41G>C
ENST00000683093.1:n.2092-41G>C
ENST00000683136.1:c.1921-41G>C	ENSP00000507768.1:n.1921-41G>C
ENST00000683153.1:n.2108G>C
ENST00000683253.1:n.3006-41G>C
ENST00000683365.1:n.2092-41G>C
ENST00000683377.1:n.1990-41G>C
ENST00000683456.1:c.1921-41G>C	ENSP00000508318.1:n.1921-41G>C
ENST00000683522.1:n.1990-41G>C
ENST00000683562.1:c.*93-41G>C	ENSP00000508265.1:n.*93-41G>C
ENST00000683693.1:n.1990-41G>C
ENST00000683725.1:c.1924-41G>C	ENSP00000507496.1:n.1924-41G>C
ENST00000684010.1:n.1990-41G>C
ENST00000684157.1:n.1990-41G>C
ENST00000684253.1:n.1896-41G>C
ENST00000684288.1:c.*93-41G>C	ENSP00000507143.1:n.*93-41G>C
ENST00000684313.1:n.1724-11484G>C
ENST00000684332.1:n.2063-41G>C
ENST00000684371.1:n.2055G>C
ENST00000684404.1:n.1990-41G>C
ENST00000684442.1:n.1990-41G>C
ENST00000684555.1:c.*133-41G>C	ENSP00000507705.1:n.*133-41G>C
ENST00000684571.1:c.1765-41G>C	ENSP00000506935.1:n.1765-41G>C
ENST00000684593.1:c.*1629-41G>C	ENSP00000507005.1:n.*1629-41G>C
ENST00000684711.1:c.*320-41G>C	ENSP00000506841.1:n.*320-41G>C
ENST00000302539.9:c.1924-41G>C	ENSP00000303960.4:n.1924-41G>C
ENST00000389817.8:c.1924-41G>C MANE Select	ENSP00000374467.4:n.1924-41G>C
ENST00000532728.6:c.1505-41G>C
ENST00000642271.1:c.1921-41G>C	ENSP00000493749.1:n.1921-41G>C
ENST00000642579.1:c.5-41G>C
ENST00000642611.1:n.1875-41G>C
ENST00000642902.1:c.1759-41G>C
ENST00000643260.1:c.1921-41G>C	ENSP00000494450.1:n.1921-41G>C
ENST00000643562.1:c.1924-49G>C	ENSP00000496124.1:n.1924-49G>C
ENST00000644447.1:c.277-41G>C	ENSP00000496282.1:n.277-41G>C
ENST00000644472.1:c.*285-41G>C	ENSP00000495378.1:n.*285-41G>C
ENST00000644484.1:c.*133-41G>C	ENSP00000493558.1:n.*133-41G>C
ENST00000644542.1:c.*1626-41G>C	ENSP00000495532.1:n.*1626-41G>C
ENST00000644649.1:c.1094-41G>C
ENST00000644675.1:c.*93-41G>C	ENSP00000494567.1:n.*93-41G>C
ENST00000644757.1:c.*226-41G>C	ENSP00000495085.1:n.*226-41G>C
ENST00000644772.1:c.1949G>C	ENSP00000494321.1:p.Ser650Thr
ENST00000645076.1:c.1176-41G>C
ENST00000645744.1:c.*285-41G>C	ENSP00000494564.1:n.*285-41G>C
ENST00000645760.1:c.2199-41G>C
ENST00000645884.1:c.1921-41G>C	ENSP00000495516.1:n.1921-41G>C
ENST00000646003.1:c.*62-41G>C	ENSP00000495259.1:n.*62-41G>C
ENST00000646207.1:c.*285-41G>C	ENSP00000495025.1:n.*285-41G>C
ENST00000646276.1:c.*194-41G>C	ENSP00000496070.1:n.*194-41G>C
ENST00000646592.1:c.1106G>C
ENST00000646902.1:c.1921-41G>C	ENSP00000494101.1:n.1921-41G>C
ENST00000646993.1:c.*320-41G>C	ENSP00000493720.1:n.*320-41G>C
ENST00000647013.1:c.1927-41G>C	ENSP00000496741.1:n.1927-41G>C
ENST00000647015.1:c.1672-41G>C	ENSP00000495389.1:n.1672-41G>C
ENST00000647086.1:c.*1651-41G>C	ENSP00000493677.1:n.*1651-41G>C
ENST00000647158.1:c.*62-41G>C	ENSP00000495744.1:n.*62-41G>C
ENST00000302539.8:c.1924-41G>C	ENSP00000303960.4:n.1924-41G>C
ENST00000389817.7:c.1924-41G>C	ENSP00000374467.3:n.1924-41G>C
ENST00000527905.5:c.1894-41G>C	ENSP00000431653.1:n.1894-41G>C
NM_000352.4:c.1924-41G>C	NP_000343.2:n.1924-41G>C
NM_001287174.1:c.1924-41G>C	NP_001274103.1:n.1924-41G>C
XM_011520331.1:c.1921-41G>C	XP_011518633.1:n.1921-41G>C
XM_011520332.1:c.1924-41G>C	XP_011518634.1:n.1924-41G>C
XM_011520333.1:c.421-41G>C	XP_011518635.1:n.421-41G>C
XM_011520334.1:c.1924-41G>C	XP_011518636.1:n.1924-41G>C
XR_930890.1:n.1987-41G>C
XR_930891.1:n.1987-41G>C
XR_930892.1:n.1987-41G>C
XR_930893.1:n.1987-41G>C
NM_001351295.1:c.1949G>C	NP_001338224.1:p.Ser650Thr
NM_001351296.1:c.1921-41G>C	NP_001338225.1:n.1921-41G>C
NM_001351297.1:c.1921-41G>C	NP_001338226.1:n.1921-41G>C
NR_147094.1:n.1990-41G>C
XM_017018197.2:c.1949G>C	XP_016873686.1:p.Ser650Thr
XM_017018199.1:c.1946G>C	XP_016873688.1:p.Ser649Thr
XM_017018201.2:c.1949G>C	XP_016873690.1:p.Ser650Thr
XM_017018202.1:c.446G>C	XP_016873691.1:p.Ser149Thr
XM_017018204.1:c.-120-41G>C	XP_016873693.1:n.-120-41G>C
XM_024448668.1:c.289-41G>C	XP_024304436.1:n.289-41G>C
XR_001747945.2:n.2021G>C
XR_001747946.2:n.1996-41G>C
XR_002957189.1:n.2021G>C
NM_000352.6:c.1924-41G>C MANE Select	NP_000343.2:n.1924-41G>C
NM_001287174.2:c.1924-41G>C	NP_001274103.1:n.1924-41G>C
NM_001351295.2:c.1949G>C	NP_001338224.1:p.Ser650Thr
NM_001351296.2:c.1921-41G>C	NP_001338225.1:n.1921-41G>C
NM_001351297.2:c.1921-41G>C	NP_001338226.1:n.1921-41G>C
NR_147094.2:n.1990-41G>C
NM_001287174.3:c.1924-41G>C	NP_001274103.1:n.1924-41G>C