Canonical Allele Identifier: CA379815166

Gene: ABCC8

Linked Data

• dbSNP Id: rs1340402679
• gnomAD v2: 11-17449867-G-C
• gnomAD v3: 11-17428320-G-C
• gnomAD v4: 11-17428320-G-C
• MyVariant Identifiers: chr11:g.17449867G>C (hg19) ; chr11:g.17428320G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428320G>C , CM000673.2:g.17428320G>C	GRCh38
NC_000011.9:g.17449867G>C , CM000673.1:g.17449867G>C	GRCh37
NC_000011.8:g.17406443G>C	NCBI36
NG_008867.1:g.53583C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1678C>G
ENST00000529967.6:n.268C>G
ENST00000642611.2:n.2075C>G
ENST00000682051.1:n.2022C>G
ENST00000682110.1:n.2075C>G
ENST00000682140.1:c.2006C>G	ENSP00000507829.1:p.Ala669Gly
ENST00000682185.1:n.3314C>G
ENST00000682204.1:c.*147C>G	ENSP00000507094.1:n.*147C>G
ENST00000682215.1:n.2075C>G
ENST00000682288.1:c.*437C>G	ENSP00000507506.1:n.*437C>G
ENST00000682442.1:n.2196C>G
ENST00000682528.1:n.2075C>G
ENST00000682673.1:n.2022C>G
ENST00000682805.1:n.2075C>G
ENST00000682965.1:c.2006C>G	ENSP00000508229.1:p.Ala669Gly
ENST00000683093.1:n.2177C>G
ENST00000683136.1:c.2006C>G	ENSP00000507768.1:p.Ala669Gly
ENST00000683153.1:n.2234C>G
ENST00000683253.1:n.3091C>G
ENST00000683365.1:n.2177C>G
ENST00000683377.1:n.2075C>G
ENST00000683456.1:c.2006C>G	ENSP00000508318.1:p.Ala669Gly
ENST00000683522.1:n.2075C>G
ENST00000683562.1:c.*178C>G	ENSP00000508265.1:n.*178C>G
ENST00000683693.1:n.2075C>G
ENST00000683725.1:c.2009C>G	ENSP00000507496.1:p.Ala670Gly
ENST00000684010.1:n.2075C>G
ENST00000684157.1:n.2075C>G
ENST00000684253.1:n.1981C>G
ENST00000684288.1:c.*178C>G	ENSP00000507143.1:n.*178C>G
ENST00000684313.1:n.1724-11358C>G
ENST00000684332.1:n.2148C>G
ENST00000684371.1:n.2181C>G
ENST00000684404.1:n.2075C>G
ENST00000684442.1:n.2075C>G
ENST00000684555.1:c.*218C>G	ENSP00000507705.1:n.*218C>G
ENST00000684571.1:c.1850C>G	ENSP00000506935.1:p.Ala617Gly
ENST00000684593.1:c.*1714C>G	ENSP00000507005.1:n.*1714C>G
ENST00000684711.1:c.*405C>G	ENSP00000506841.1:n.*405C>G
ENST00000302539.9:c.2009C>G	ENSP00000303960.4:p.Ala670Gly
ENST00000389817.8:c.2009C>G MANE Select	ENSP00000374467.4:p.Ala670Gly
ENST00000532728.6:c.1590C>G
ENST00000642271.1:c.2006C>G	ENSP00000493749.1:p.Ala669Gly
ENST00000642579.1:c.90C>G
ENST00000642611.1:n.1960C>G
ENST00000642902.1:c.1844C>G
ENST00000643260.1:c.2006C>G	ENSP00000494450.1:p.Ala669Gly
ENST00000643562.1:c.2001C>G	ENSP00000496124.1:p.Cys667Trp
ENST00000644447.1:c.362C>G	ENSP00000496282.1:p.Ala121Gly
ENST00000644472.1:c.*370C>G	ENSP00000495378.1:n.*370C>G
ENST00000644484.1:c.*218C>G	ENSP00000493558.1:n.*218C>G
ENST00000644542.1:c.*1711C>G	ENSP00000495532.1:n.*1711C>G
ENST00000644649.1:c.1179C>G
ENST00000644675.1:c.*178C>G	ENSP00000494567.1:n.*178C>G
ENST00000644757.1:c.*311C>G	ENSP00000495085.1:n.*311C>G
ENST00000644772.1:c.2075C>G	ENSP00000494321.1:p.Ala692Gly
ENST00000645076.1:c.1261C>G
ENST00000645744.1:c.*370C>G	ENSP00000494564.1:n.*370C>G
ENST00000645760.1:c.2284C>G
ENST00000645884.1:c.2006C>G	ENSP00000495516.1:p.Ala669Gly
ENST00000646003.1:c.*147C>G	ENSP00000495259.1:n.*147C>G
ENST00000646207.1:c.*370C>G	ENSP00000495025.1:n.*370C>G
ENST00000646276.1:c.*279C>G	ENSP00000496070.1:n.*279C>G
ENST00000646592.1:c.1232C>G
ENST00000646902.1:c.2006C>G	ENSP00000494101.1:p.Ala669Gly
ENST00000646993.1:c.*405C>G	ENSP00000493720.1:n.*405C>G
ENST00000647013.1:c.2012C>G	ENSP00000496741.1:n.2012C>G
ENST00000647015.1:c.1757C>G	ENSP00000495389.1:p.Ala586Gly
ENST00000647086.1:c.*1736C>G	ENSP00000493677.1:n.*1736C>G
ENST00000647158.1:c.*147C>G	ENSP00000495744.1:n.*147C>G
ENST00000302539.8:c.2009C>G	ENSP00000303960.4:p.Ala670Gly
ENST00000389817.7:c.2009C>G	ENSP00000374467.3:p.Ala670Gly
ENST00000527905.5:c.1979C>G	ENSP00000431653.1:p.Ala660Gly
NM_000352.4:c.2009C>G	NP_000343.2:p.Ala670Gly
NM_001287174.1:c.2009C>G	NP_001274103.1:p.Ala670Gly
XM_011520331.1:c.2006C>G	XP_011518633.1:p.Ala669Gly
XM_011520332.1:c.2009C>G	XP_011518634.1:p.Ala670Gly
XM_011520333.1:c.506C>G	XP_011518635.1:p.Ala169Gly
XM_011520334.1:c.2009C>G	XP_011518636.1:p.Ala670Gly
XR_930890.1:n.2072C>G
XR_930891.1:n.2072C>G
XR_930892.1:n.2072C>G
XR_930893.1:n.2072C>G
NM_001351295.1:c.2075C>G	NP_001338224.1:p.Ala692Gly
NM_001351296.1:c.2006C>G	NP_001338225.1:p.Ala669Gly
NM_001351297.1:c.2006C>G	NP_001338226.1:p.Ala669Gly
NR_147094.1:n.2075C>G
XM_017018197.2:c.2075C>G	XP_016873686.1:p.Ala692Gly
XM_017018199.1:c.2072C>G	XP_016873688.1:p.Ala691Gly
XM_017018201.2:c.2075C>G	XP_016873690.1:p.Ala692Gly
XM_017018202.1:c.572C>G	XP_016873691.1:p.Ala191Gly
XM_017018204.1:c.-35C>G	XP_016873693.1:n.-35C>G
XM_024448668.1:c.374C>G	XP_024304436.1:p.Ala125Gly
XR_001747945.2:n.2147C>G
XR_001747946.2:n.2081C>G
XR_002957189.1:n.2147C>G
NM_000352.6:c.2009C>G MANE Select	NP_000343.2:p.Ala670Gly
NM_001287174.2:c.2009C>G	NP_001274103.1:p.Ala670Gly
NM_001351295.2:c.2075C>G	NP_001338224.1:p.Ala692Gly
NM_001351296.2:c.2006C>G	NP_001338225.1:p.Ala669Gly
NM_001351297.2:c.2006C>G	NP_001338226.1:p.Ala669Gly
NR_147094.2:n.2075C>G
NM_001287174.3:c.2009C>G	NP_001274103.1:p.Ala670Gly