Canonical Allele Identifier: CA1955138522

Gene: ABCC8

Linked Data

• dbSNP Id: rs1955698712
• gnomAD v4: 11-17428531-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428531T>C , CM000673.2:g.17428531T>C	GRCh38
NC_000011.9:g.17450078T>C , CM000673.1:g.17450078T>C	GRCh37
NC_000011.8:g.17406654T>C	NCBI36
NG_008867.1:g.53372A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.1592+34A>G
ENST00000529967.6:n.57A>G
ENST00000642611.2:n.1989+34A>G
ENST00000682051.1:n.1936+34A>G
ENST00000682110.1:n.1989+34A>G
ENST00000682140.1:c.1920+34A>G	ENSP00000507829.1:n.1920+34A>G
ENST00000682185.1:n.3228+34A>G
ENST00000682204.1:c.*61+34A>G	ENSP00000507094.1:n.*61+34A>G
ENST00000682215.1:n.1989+34A>G
ENST00000682288.1:c.*351+34A>G	ENSP00000507506.1:n.*351+34A>G
ENST00000682442.1:n.2110+34A>G
ENST00000682528.1:n.1989+34A>G
ENST00000682673.1:n.1936+34A>G
ENST00000682805.1:n.1989+34A>G
ENST00000682965.1:c.1920+34A>G	ENSP00000508229.1:n.1920+34A>G
ENST00000683093.1:n.2091+34A>G
ENST00000683136.1:c.1920+34A>G	ENSP00000507768.1:n.1920+34A>G
ENST00000683153.1:n.2023A>G
ENST00000683253.1:n.3005+34A>G
ENST00000683365.1:n.2091+34A>G
ENST00000683377.1:n.1989+34A>G
ENST00000683456.1:c.1920+34A>G	ENSP00000508318.1:n.1920+34A>G
ENST00000683522.1:n.1989+34A>G
ENST00000683562.1:c.*92+34A>G	ENSP00000508265.1:n.*92+34A>G
ENST00000683693.1:n.1989+34A>G
ENST00000683725.1:c.1923+34A>G	ENSP00000507496.1:n.1923+34A>G
ENST00000684010.1:n.1989+34A>G
ENST00000684157.1:n.1989+34A>G
ENST00000684253.1:n.1895+34A>G
ENST00000684288.1:c.*92+34A>G	ENSP00000507143.1:n.*92+34A>G
ENST00000684313.1:n.1724-11569A>G
ENST00000684332.1:n.2062+34A>G
ENST00000684371.1:n.1970A>G
ENST00000684404.1:n.1989+34A>G
ENST00000684442.1:n.1989+34A>G
ENST00000684555.1:c.*132+34A>G	ENSP00000507705.1:n.*132+34A>G
ENST00000684571.1:c.1764+34A>G	ENSP00000506935.1:n.1764+34A>G
ENST00000684593.1:c.*1628+34A>G	ENSP00000507005.1:n.*1628+34A>G
ENST00000684711.1:c.*319+34A>G	ENSP00000506841.1:n.*319+34A>G
ENST00000302539.9:c.1923+34A>G	ENSP00000303960.4:n.1923+34A>G
ENST00000389817.8:c.1923+34A>G MANE Select	ENSP00000374467.4:n.1923+34A>G
ENST00000532728.6:c.1504+34A>G
ENST00000642271.1:c.1920+34A>G	ENSP00000493749.1:n.1920+34A>G
ENST00000642579.1:c.4+34A>G
ENST00000642611.1:n.1874+34A>G
ENST00000642902.1:c.1758+34A>G
ENST00000643260.1:c.1920+34A>G	ENSP00000494450.1:n.1920+34A>G
ENST00000643562.1:c.1923+34A>G	ENSP00000496124.1:n.1923+34A>G
ENST00000644447.1:c.276+34A>G	ENSP00000496282.1:n.276+34A>G
ENST00000644472.1:c.*284+34A>G	ENSP00000495378.1:n.*284+34A>G
ENST00000644484.1:c.*132+34A>G	ENSP00000493558.1:n.*132+34A>G
ENST00000644542.1:c.*1625+34A>G	ENSP00000495532.1:n.*1625+34A>G
ENST00000644649.1:c.1093+34A>G
ENST00000644675.1:c.*92+34A>G	ENSP00000494567.1:n.*92+34A>G
ENST00000644757.1:c.*225+34A>G	ENSP00000495085.1:n.*225+34A>G
ENST00000644772.1:c.1923+34A>G	ENSP00000494321.1:n.1923+34A>G
ENST00000645076.1:c.1175+34A>G
ENST00000645744.1:c.*284+34A>G	ENSP00000494564.1:n.*284+34A>G
ENST00000645760.1:c.2198+34A>G
ENST00000645884.1:c.1920+34A>G	ENSP00000495516.1:n.1920+34A>G
ENST00000646003.1:c.*61+34A>G	ENSP00000495259.1:n.*61+34A>G
ENST00000646207.1:c.*284+34A>G	ENSP00000495025.1:n.*284+34A>G
ENST00000646276.1:c.*193+34A>G	ENSP00000496070.1:n.*193+34A>G
ENST00000646592.1:c.1021A>G
ENST00000646902.1:c.1920+34A>G	ENSP00000494101.1:n.1920+34A>G
ENST00000646993.1:c.*319+34A>G	ENSP00000493720.1:n.*319+34A>G
ENST00000647013.1:c.1926+34A>G	ENSP00000496741.1:n.1926+34A>G
ENST00000647015.1:c.1672-126A>G	ENSP00000495389.1:n.1672-126A>G
ENST00000647086.1:c.*1650+34A>G	ENSP00000493677.1:n.*1650+34A>G
ENST00000647158.1:c.*61+34A>G	ENSP00000495744.1:n.*61+34A>G
ENST00000302539.8:c.1923+34A>G	ENSP00000303960.4:n.1923+34A>G
ENST00000389817.7:c.1923+34A>G	ENSP00000374467.3:n.1923+34A>G
ENST00000527905.5:c.1893+34A>G	ENSP00000431653.1:n.1893+34A>G
NM_000352.4:c.1923+34A>G	NP_000343.2:n.1923+34A>G
NM_001287174.1:c.1923+34A>G	NP_001274103.1:n.1923+34A>G
XM_011520331.1:c.1920+34A>G	XP_011518633.1:n.1920+34A>G
XM_011520332.1:c.1923+34A>G	XP_011518634.1:n.1923+34A>G
XM_011520333.1:c.420+34A>G	XP_011518635.1:n.420+34A>G
XM_011520334.1:c.1923+34A>G	XP_011518636.1:n.1923+34A>G
XR_930890.1:n.1986+34A>G
XR_930891.1:n.1986+34A>G
XR_930892.1:n.1986+34A>G
XR_930893.1:n.1986+34A>G
NM_001351295.1:c.1923+34A>G	NP_001338224.1:n.1923+34A>G
NM_001351296.1:c.1920+34A>G	NP_001338225.1:n.1920+34A>G
NM_001351297.1:c.1920+34A>G	NP_001338226.1:n.1920+34A>G
NR_147094.1:n.1989+34A>G
XM_017018197.2:c.1923+34A>G	XP_016873686.1:n.1923+34A>G
XM_017018199.1:c.1920+34A>G	XP_016873688.1:n.1920+34A>G
XM_017018201.2:c.1923+34A>G	XP_016873690.1:n.1923+34A>G
XM_017018202.1:c.420+34A>G	XP_016873691.1:n.420+34A>G
XM_017018204.1:c.-121+34A>G	XP_016873693.1:n.-121+34A>G
XM_024448668.1:c.288+34A>G	XP_024304436.1:n.288+34A>G
XR_001747945.2:n.1995+34A>G
XR_001747946.2:n.1995+34A>G
XR_002957189.1:n.1995+34A>G
NM_000352.6:c.1923+34A>G MANE Select	NP_000343.2:n.1923+34A>G
NM_001287174.2:c.1923+34A>G	NP_001274103.1:n.1923+34A>G
NM_001351295.2:c.1923+34A>G	NP_001338224.1:n.1923+34A>G
NM_001351296.2:c.1920+34A>G	NP_001338225.1:n.1920+34A>G
NM_001351297.2:c.1920+34A>G	NP_001338226.1:n.1920+34A>G
NR_147094.2:n.1989+34A>G
NM_001287174.3:c.1923+34A>G	NP_001274103.1:n.1923+34A>G