Canonical Allele Identifier: CA379790507

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418508C>A (hg19) ; chr11:g.17396961C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396961C>A , CM000673.2:g.17396961C>A	GRCh38
NC_000011.9:g.17418508C>A , CM000673.1:g.17418508C>A	GRCh37
NC_000011.8:g.17375084C>A	NCBI36
NG_008867.1:g.84942G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3675G>T
ENST00000528374.2:c.665G>T
ENST00000529967.6:n.2413G>T
ENST00000532220.2:n.2322G>T
ENST00000642611.2:n.4289G>T
ENST00000644057.2:n.517G>T
ENST00000645004.2:n.1573G>T
ENST00000682051.1:n.4236G>T
ENST00000682110.1:n.4289G>T
ENST00000682140.1:c.3985+232G>T	ENSP00000507829.1:n.3985+232G>T
ENST00000682185.1:n.5379G>T
ENST00000682204.1:c.*2212G>T	ENSP00000507094.1:n.*2212G>T
ENST00000682215.1:n.4656G>T
ENST00000682288.1:c.*2505G>T	ENSP00000507506.1:n.*2505G>T
ENST00000682442.1:n.4509G>T
ENST00000682528.1:n.4366G>T
ENST00000682673.1:n.4233G>T
ENST00000682805.1:n.4656G>T
ENST00000682965.1:c.*496G>T	ENSP00000508229.1:n.*496G>T
ENST00000683093.1:n.4388G>T
ENST00000683136.1:c.3957G>T	ENSP00000507768.1:p.Lys1319Asn
ENST00000683153.1:n.4331G>T
ENST00000683365.1:n.4391G>T
ENST00000683377.1:n.4289G>T
ENST00000683456.1:c.*1211G>T	ENSP00000508318.1:n.*1211G>T
ENST00000683522.1:n.4289G>T
ENST00000683562.1:c.*2243G>T	ENSP00000508265.1:n.*2243G>T
ENST00000683693.1:n.4736G>T
ENST00000683725.1:c.4074G>T	ENSP00000507496.1:p.Lys1358Asn
ENST00000684010.1:n.4284G>T
ENST00000684157.1:n.4289G>T
ENST00000684253.1:n.4192G>T
ENST00000684288.1:c.*2246G>T	ENSP00000507143.1:n.*2246G>T
ENST00000684313.1:n.3721G>T
ENST00000684332.1:n.4362G>T
ENST00000684371.1:n.4395G>T
ENST00000684404.1:n.4332G>T
ENST00000684442.1:n.4513G>T
ENST00000684555.1:c.*2286G>T	ENSP00000507705.1:n.*2286G>T
ENST00000684571.1:c.3915G>T	ENSP00000506935.1:p.Lys1305Asn
ENST00000684593.1:c.*3779G>T	ENSP00000507005.1:n.*3779G>T
ENST00000684711.1:c.*2470G>T	ENSP00000506841.1:n.*2470G>T
ENST00000302539.9:c.4077G>T	ENSP00000303960.4:p.Lys1359Asn
ENST00000389817.8:c.4074G>T MANE Select	ENSP00000374467.4:p.Lys1358Asn
ENST00000642271.1:c.4071G>T	ENSP00000493749.1:p.Lys1357Asn
ENST00000642579.1:c.2128G>T
ENST00000642611.1:n.4174G>T
ENST00000642902.1:c.3856G>T
ENST00000643260.1:c.4074G>T	ENSP00000494450.1:p.Lys1358Asn
ENST00000643562.1:c.*2196G>T	ENSP00000496124.1:n.*2196G>T
ENST00000643925.1:c.2714G>T
ENST00000644057.1:n.151G>T
ENST00000644484.1:c.*2475G>T	ENSP00000493558.1:n.*2475G>T
ENST00000644675.1:c.*2246G>T	ENSP00000494567.1:n.*2246G>T
ENST00000644757.1:c.*2505G>T	ENSP00000495085.1:n.*2505G>T
ENST00000644772.1:c.4140G>T	ENSP00000494321.1:p.Lys1380Asn
ENST00000645004.1:n.1729G>T
ENST00000645076.1:c.3273G>T
ENST00000645417.1:c.1262G>T
ENST00000645744.1:c.*2854G>T	ENSP00000494564.1:n.*2854G>T
ENST00000645760.1:c.4495G>T
ENST00000645884.1:c.*1357G>T	ENSP00000495516.1:n.*1357G>T
ENST00000646003.1:c.*2176G>T	ENSP00000495259.1:n.*2176G>T
ENST00000646207.1:c.*2911G>T	ENSP00000495025.1:n.*2911G>T
ENST00000646276.1:c.*2493G>T	ENSP00000496070.1:n.*2493G>T
ENST00000646592.1:c.3380G>T
ENST00000646902.1:c.4041G>T	ENSP00000494101.1:p.Lys1347Asn
ENST00000646993.1:c.*2616G>T	ENSP00000493720.1:n.*2616G>T
ENST00000647013.1:c.4080G>T	ENSP00000496741.1:n.4080G>T
ENST00000647015.1:c.3825G>T	ENSP00000495389.1:p.Lys1275Asn
ENST00000647086.1:c.*3660G>T	ENSP00000493677.1:n.*3660G>T
ENST00000647158.1:c.*2361G>T	ENSP00000495744.1:n.*2361G>T
ENST00000302539.8:c.4077G>T	ENSP00000303960.4:p.Lys1359Asn
ENST00000389817.7:c.4074G>T	ENSP00000374467.3:p.Lys1358Asn
ENST00000527905.5:c.*1096G>T	ENSP00000431653.1:n.*1096G>T
ENST00000528374.1:c.556G>T
ENST00000531137.1:n.639G>T
ENST00000531891.1:c.412G>T
ENST00000532220.1:n.548G>T
NM_000352.4:c.4074G>T	NP_000343.2:p.Lys1358Asn
NM_001287174.1:c.4077G>T	NP_001274103.1:p.Lys1359Asn
XM_011520331.1:c.4074G>T	XP_011518633.1:p.Lys1358Asn
XM_011520332.1:c.4077G>T	XP_011518634.1:p.Lys1359Asn
XM_011520333.1:c.2574G>T	XP_011518635.1:p.Lys858Asn
XR_930890.1:n.4140G>T
NM_001351295.1:c.4140G>T	NP_001338224.1:p.Lys1380Asn
NM_001351296.1:c.4074G>T	NP_001338225.1:p.Lys1358Asn
NM_001351297.1:c.4071G>T	NP_001338226.1:p.Lys1357Asn
NR_147094.1:n.4369G>T
XM_017018197.2:c.4143G>T	XP_016873686.1:p.Lys1381Asn
XM_017018199.1:c.4140G>T	XP_016873688.1:p.Lys1380Asn
XM_017018201.2:c.4143G>T	XP_016873690.1:p.Lys1381Asn
XM_017018202.1:c.2640G>T	XP_016873691.1:p.Lys880Asn
XM_017018204.1:c.2031G>T	XP_016873693.1:p.Lys677Asn
XM_024448668.1:c.2442G>T	XP_024304436.1:p.Lys814Asn
XR_001747945.2:n.4215G>T
XR_001747946.2:n.4146G>T
XR_002957189.1:n.4811G>T
NM_000352.6:c.4074G>T MANE Select	NP_000343.2:p.Lys1358Asn
NM_001287174.2:c.4077G>T	NP_001274103.1:p.Lys1359Asn
NM_001351295.2:c.4140G>T	NP_001338224.1:p.Lys1380Asn
NM_001351296.2:c.4074G>T	NP_001338225.1:p.Lys1358Asn
NM_001351297.2:c.4071G>T	NP_001338226.1:p.Lys1357Asn
NR_147094.2:n.4369G>T
NM_001287174.3:c.4077G>T	NP_001274103.1:p.Lys1359Asn