Canonical Allele Identifier: CA379790456

Gene: ABCC8

Linked Data

• dbSNP Id: rs1953962566
• MyVariant Identifiers: chr11:g.17418503A>G (hg19) ; chr11:g.17396956A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396956A>G , CM000673.2:g.17396956A>G	GRCh38
NC_000011.9:g.17418503A>G , CM000673.1:g.17418503A>G	GRCh37
NC_000011.8:g.17375079A>G	NCBI36
NG_008867.1:g.84947T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3680T>C
ENST00000528374.2:c.670T>C
ENST00000529967.6:n.2418T>C
ENST00000532220.2:n.2327T>C
ENST00000642611.2:n.4294T>C
ENST00000644057.2:n.522T>C
ENST00000645004.2:n.1578T>C
ENST00000682051.1:n.4241T>C
ENST00000682110.1:n.4294T>C
ENST00000682140.1:c.3985+237T>C	ENSP00000507829.1:n.3985+237T>C
ENST00000682185.1:n.5384T>C
ENST00000682204.1:c.*2217T>C	ENSP00000507094.1:n.*2217T>C
ENST00000682215.1:n.4661T>C
ENST00000682288.1:c.*2510T>C	ENSP00000507506.1:n.*2510T>C
ENST00000682442.1:n.4514T>C
ENST00000682528.1:n.4371T>C
ENST00000682673.1:n.4238T>C
ENST00000682805.1:n.4661T>C
ENST00000682965.1:c.*501T>C	ENSP00000508229.1:n.*501T>C
ENST00000683093.1:n.4393T>C
ENST00000683136.1:c.3962T>C	ENSP00000507768.1:p.Val1321Ala
ENST00000683153.1:n.4336T>C
ENST00000683365.1:n.4396T>C
ENST00000683377.1:n.4294T>C
ENST00000683456.1:c.*1216T>C	ENSP00000508318.1:n.*1216T>C
ENST00000683522.1:n.4294T>C
ENST00000683562.1:c.*2248T>C	ENSP00000508265.1:n.*2248T>C
ENST00000683693.1:n.4741T>C
ENST00000683725.1:c.4079T>C	ENSP00000507496.1:p.Val1360Ala
ENST00000684010.1:n.4289T>C
ENST00000684157.1:n.4294T>C
ENST00000684253.1:n.4197T>C
ENST00000684288.1:c.*2251T>C	ENSP00000507143.1:n.*2251T>C
ENST00000684313.1:n.3726T>C
ENST00000684332.1:n.4367T>C
ENST00000684371.1:n.4400T>C
ENST00000684404.1:n.4337T>C
ENST00000684442.1:n.4518T>C
ENST00000684555.1:c.*2291T>C	ENSP00000507705.1:n.*2291T>C
ENST00000684571.1:c.3920T>C	ENSP00000506935.1:p.Val1307Ala
ENST00000684593.1:c.*3784T>C	ENSP00000507005.1:n.*3784T>C
ENST00000684711.1:c.*2475T>C	ENSP00000506841.1:n.*2475T>C
ENST00000302539.9:c.4082T>C	ENSP00000303960.4:p.Val1361Ala
ENST00000389817.8:c.4079T>C MANE Select	ENSP00000374467.4:p.Val1360Ala
ENST00000642271.1:c.4076T>C	ENSP00000493749.1:p.Val1359Ala
ENST00000642579.1:c.2133T>C
ENST00000642611.1:n.4179T>C
ENST00000642902.1:c.3861T>C
ENST00000643260.1:c.4079T>C	ENSP00000494450.1:p.Val1360Ala
ENST00000643562.1:c.*2201T>C	ENSP00000496124.1:n.*2201T>C
ENST00000643925.1:c.2719T>C
ENST00000644057.1:n.156T>C
ENST00000644484.1:c.*2480T>C	ENSP00000493558.1:n.*2480T>C
ENST00000644675.1:c.*2251T>C	ENSP00000494567.1:n.*2251T>C
ENST00000644757.1:c.*2510T>C	ENSP00000495085.1:n.*2510T>C
ENST00000644772.1:c.4145T>C	ENSP00000494321.1:p.Val1382Ala
ENST00000645004.1:n.1734T>C
ENST00000645076.1:c.3278T>C
ENST00000645417.1:c.1267T>C
ENST00000645744.1:c.*2859T>C	ENSP00000494564.1:n.*2859T>C
ENST00000645760.1:c.4500T>C
ENST00000645884.1:c.*1362T>C	ENSP00000495516.1:n.*1362T>C
ENST00000646003.1:c.*2181T>C	ENSP00000495259.1:n.*2181T>C
ENST00000646207.1:c.*2916T>C	ENSP00000495025.1:n.*2916T>C
ENST00000646276.1:c.*2498T>C	ENSP00000496070.1:n.*2498T>C
ENST00000646592.1:c.3385T>C
ENST00000646902.1:c.4046T>C	ENSP00000494101.1:p.Val1349Ala
ENST00000646993.1:c.*2621T>C	ENSP00000493720.1:n.*2621T>C
ENST00000647013.1:c.4085T>C	ENSP00000496741.1:n.4085T>C
ENST00000647015.1:c.3830T>C	ENSP00000495389.1:p.Val1277Ala
ENST00000647086.1:c.*3665T>C	ENSP00000493677.1:n.*3665T>C
ENST00000647158.1:c.*2366T>C	ENSP00000495744.1:n.*2366T>C
ENST00000302539.8:c.4082T>C	ENSP00000303960.4:p.Val1361Ala
ENST00000389817.7:c.4079T>C	ENSP00000374467.3:p.Val1360Ala
ENST00000527905.5:c.*1101T>C	ENSP00000431653.1:n.*1101T>C
ENST00000528374.1:c.561T>C
ENST00000531137.1:n.644T>C
ENST00000531891.1:c.417T>C
ENST00000532220.1:n.553T>C
NM_000352.4:c.4079T>C	NP_000343.2:p.Val1360Ala
NM_001287174.1:c.4082T>C	NP_001274103.1:p.Val1361Ala
XM_011520331.1:c.4079T>C	XP_011518633.1:p.Val1360Ala
XM_011520332.1:c.4082T>C	XP_011518634.1:p.Val1361Ala
XM_011520333.1:c.2579T>C	XP_011518635.1:p.Val860Ala
XR_930890.1:n.4145T>C
NM_001351295.1:c.4145T>C	NP_001338224.1:p.Val1382Ala
NM_001351296.1:c.4079T>C	NP_001338225.1:p.Val1360Ala
NM_001351297.1:c.4076T>C	NP_001338226.1:p.Val1359Ala
NR_147094.1:n.4374T>C
XM_017018197.2:c.4148T>C	XP_016873686.1:p.Val1383Ala
XM_017018199.1:c.4145T>C	XP_016873688.1:p.Val1382Ala
XM_017018201.2:c.4148T>C	XP_016873690.1:p.Val1383Ala
XM_017018202.1:c.2645T>C	XP_016873691.1:p.Val882Ala
XM_017018204.1:c.2036T>C	XP_016873693.1:p.Val679Ala
XM_024448668.1:c.2447T>C	XP_024304436.1:p.Val816Ala
XR_001747945.2:n.4220T>C
XR_001747946.2:n.4151T>C
XR_002957189.1:n.4816T>C
NM_000352.6:c.4079T>C MANE Select	NP_000343.2:p.Val1360Ala
NM_001287174.2:c.4082T>C	NP_001274103.1:p.Val1361Ala
NM_001351295.2:c.4145T>C	NP_001338224.1:p.Val1382Ala
NM_001351296.2:c.4079T>C	NP_001338225.1:p.Val1360Ala
NM_001351297.2:c.4076T>C	NP_001338226.1:p.Val1359Ala
NR_147094.2:n.4374T>C
NM_001287174.3:c.4082T>C	NP_001274103.1:p.Val1361Ala