Canonical Allele Identifier: CA379788602

Gene: ABCC8

Linked Data

• dbSNP Id: rs866198779
• MyVariant Identifiers: chr11:g.17417474C>G (hg19) ; chr11:g.17395927C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395927C>G , CM000673.2:g.17395927C>G	GRCh38
NC_000011.9:g.17417474C>G , CM000673.1:g.17417474C>G	GRCh37
NC_000011.8:g.17374050C>G	NCBI36
NG_008867.1:g.85976G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3724G>C
ENST00000528374.2:c.714G>C
ENST00000529967.6:n.2462G>C
ENST00000532220.2:n.3356G>C
ENST00000642611.2:n.5323G>C
ENST00000644057.2:n.566G>C
ENST00000645004.2:n.1622G>C
ENST00000682051.1:n.4285G>C
ENST00000682110.1:n.4338G>C
ENST00000682140.1:c.3989G>C	ENSP00000507829.1:p.Arg1330Pro
ENST00000682185.1:n.5428G>C
ENST00000682204.1:c.*2261G>C	ENSP00000507094.1:n.*2261G>C
ENST00000682215.1:n.4705G>C
ENST00000682288.1:c.*2554G>C	ENSP00000507506.1:n.*2554G>C
ENST00000682442.1:n.4558G>C
ENST00000682528.1:n.4415G>C
ENST00000682673.1:n.4282G>C
ENST00000682805.1:n.4743G>C
ENST00000682965.1:c.*545G>C	ENSP00000508229.1:n.*545G>C
ENST00000683093.1:n.5422G>C
ENST00000683136.1:c.4006G>C	ENSP00000507768.1:p.Gly1336Arg
ENST00000683153.1:n.4380G>C
ENST00000683365.1:n.4440G>C
ENST00000683377.1:n.4338G>C
ENST00000683456.1:c.*1260G>C	ENSP00000508318.1:n.*1260G>C
ENST00000683522.1:n.4338G>C
ENST00000683562.1:c.*2292G>C	ENSP00000508265.1:n.*2292G>C
ENST00000683693.1:n.5770G>C
ENST00000683725.1:c.4123G>C	ENSP00000507496.1:p.Gly1375Arg
ENST00000684010.1:n.4333G>C
ENST00000684157.1:n.5323G>C
ENST00000684253.1:n.4241G>C
ENST00000684288.1:c.*2295G>C	ENSP00000507143.1:n.*2295G>C
ENST00000684313.1:n.3770G>C
ENST00000684332.1:n.4411G>C
ENST00000684371.1:n.4444G>C
ENST00000684404.1:n.5366G>C
ENST00000684442.1:n.4562G>C
ENST00000684555.1:c.*2335G>C	ENSP00000507705.1:n.*2335G>C
ENST00000684571.1:c.3964G>C	ENSP00000506935.1:p.Gly1322Arg
ENST00000684593.1:c.*3828G>C	ENSP00000507005.1:n.*3828G>C
ENST00000684711.1:c.*2519G>C	ENSP00000506841.1:n.*2519G>C
ENST00000302539.9:c.4126G>C	ENSP00000303960.4:p.Gly1376Arg
ENST00000389817.8:c.4123G>C MANE Select	ENSP00000374467.4:p.Gly1375Arg
ENST00000642271.1:c.4120G>C	ENSP00000493749.1:p.Gly1374Arg
ENST00000642579.1:c.2177G>C
ENST00000642611.1:n.5208G>C
ENST00000642902.1:c.3905G>C
ENST00000643260.1:c.4123G>C	ENSP00000494450.1:p.Gly1375Arg
ENST00000643562.1:c.*2245G>C	ENSP00000496124.1:n.*2245G>C
ENST00000643925.1:c.2763G>C
ENST00000644057.1:n.200G>C
ENST00000644484.1:c.*3509G>C	ENSP00000493558.1:n.*3509G>C
ENST00000644675.1:c.*2295G>C	ENSP00000494567.1:n.*2295G>C
ENST00000644757.1:c.*3202+337G>C	ENSP00000495085.1:n.*3202+337G>C
ENST00000644772.1:c.4189G>C	ENSP00000494321.1:p.Gly1397Arg
ENST00000645004.1:n.1816G>C
ENST00000645076.1:c.3322G>C
ENST00000645417.1:c.1311G>C
ENST00000645744.1:c.*3888G>C	ENSP00000494564.1:n.*3888G>C
ENST00000645760.1:c.4544G>C
ENST00000645884.1:c.*1406G>C	ENSP00000495516.1:n.*1406G>C
ENST00000646003.1:c.*2225G>C	ENSP00000495259.1:n.*2225G>C
ENST00000646207.1:c.*2960G>C	ENSP00000495025.1:n.*2960G>C
ENST00000646276.1:c.*3527G>C	ENSP00000496070.1:n.*3527G>C
ENST00000646592.1:c.3429G>C
ENST00000646902.1:c.4090G>C	ENSP00000494101.1:p.Gly1364Arg
ENST00000646993.1:c.*2665G>C	ENSP00000493720.1:n.*2665G>C
ENST00000647013.1:c.4129G>C	ENSP00000496741.1:n.4129G>C
ENST00000647015.1:c.3874G>C	ENSP00000495389.1:p.Gly1292Arg
ENST00000647086.1:c.*3709G>C	ENSP00000493677.1:n.*3709G>C
ENST00000647158.1:c.*2410G>C	ENSP00000495744.1:n.*2410G>C
ENST00000302539.8:c.4126G>C	ENSP00000303960.4:p.Gly1376Arg
ENST00000389817.7:c.4123G>C	ENSP00000374467.3:p.Gly1375Arg
ENST00000528374.1:c.605G>C
ENST00000532220.1:n.597G>C
NM_000352.4:c.4123G>C	NP_000343.2:p.Gly1375Arg
NM_001287174.1:c.4126G>C	NP_001274103.1:p.Gly1376Arg
XM_011520331.1:c.4123G>C	XP_011518633.1:p.Gly1375Arg
XM_011520332.1:c.4126G>C	XP_011518634.1:p.Gly1376Arg
XM_011520333.1:c.2623G>C	XP_011518635.1:p.Gly875Arg
XR_930890.1:n.4189G>C
NM_001351295.1:c.4189G>C	NP_001338224.1:p.Gly1397Arg
NM_001351296.1:c.4123G>C	NP_001338225.1:p.Gly1375Arg
NM_001351297.1:c.4120G>C	NP_001338226.1:p.Gly1374Arg
NR_147094.1:n.4418G>C
XM_017018197.2:c.4192G>C	XP_016873686.1:p.Gly1398Arg
XM_017018199.1:c.4189G>C	XP_016873688.1:p.Gly1397Arg
XM_017018201.2:c.4192G>C	XP_016873690.1:p.Gly1398Arg
XM_017018202.1:c.2689G>C	XP_016873691.1:p.Gly897Arg
XM_017018204.1:c.2080G>C	XP_016873693.1:p.Gly694Arg
XM_024448668.1:c.2491G>C	XP_024304436.1:p.Gly831Arg
XR_001747945.2:n.4264G>C
XR_001747946.2:n.4195G>C
XR_002957189.1:n.5845G>C
NM_000352.6:c.4123G>C MANE Select	NP_000343.2:p.Gly1375Arg
NM_001287174.2:c.4126G>C	NP_001274103.1:p.Gly1376Arg
NM_001351295.2:c.4189G>C	NP_001338224.1:p.Gly1397Arg
NM_001351296.2:c.4123G>C	NP_001338225.1:p.Gly1375Arg
NM_001351297.2:c.4120G>C	NP_001338226.1:p.Gly1374Arg
NR_147094.2:n.4418G>C
NM_001287174.3:c.4126G>C	NP_001274103.1:p.Gly1376Arg