Canonical Allele Identifier: CA473298305

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417448C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395901C>G , CM000673.2:g.17395901C>G	GRCh38
NC_000011.9:g.17417448C>G , CM000673.1:g.17417448C>G	GRCh37
NC_000011.8:g.17374024C>G	NCBI36
NG_008867.1:g.86002G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3750G>C
ENST00000528374.2:c.740G>C
ENST00000529967.6:n.2488G>C
ENST00000532220.2:n.3382G>C
ENST00000642611.2:n.5349G>C
ENST00000644057.2:n.592G>C
ENST00000645004.2:n.1648G>C
ENST00000682051.1:n.4311G>C
ENST00000682110.1:n.4364G>C
ENST00000682140.1:c.4015G>C	ENSP00000507829.1:p.Glu1339Gln
ENST00000682185.1:n.5454G>C
ENST00000682204.1:c.*2287G>C	ENSP00000507094.1:n.*2287G>C
ENST00000682215.1:n.4731G>C
ENST00000682288.1:c.*2580G>C	ENSP00000507506.1:n.*2580G>C
ENST00000682442.1:n.4584G>C
ENST00000682528.1:n.4441G>C
ENST00000682673.1:n.4308G>C
ENST00000682805.1:n.4769G>C
ENST00000682965.1:c.*571G>C	ENSP00000508229.1:n.*571G>C
ENST00000683093.1:n.5448G>C
ENST00000683136.1:c.4032G>C	ENSP00000507768.1:p.Gly1344=
ENST00000683153.1:n.4406G>C
ENST00000683365.1:n.4466G>C
ENST00000683377.1:n.4364G>C
ENST00000683456.1:c.*1286G>C	ENSP00000508318.1:n.*1286G>C
ENST00000683522.1:n.4364G>C
ENST00000683562.1:c.*2318G>C	ENSP00000508265.1:n.*2318G>C
ENST00000683693.1:n.5796G>C
ENST00000683725.1:c.4149G>C	ENSP00000507496.1:p.Gly1383=
ENST00000684010.1:n.4359G>C
ENST00000684157.1:n.5349G>C
ENST00000684253.1:n.4267G>C
ENST00000684288.1:c.*2321G>C	ENSP00000507143.1:n.*2321G>C
ENST00000684313.1:n.3796G>C
ENST00000684332.1:n.4437G>C
ENST00000684371.1:n.4470G>C
ENST00000684404.1:n.5392G>C
ENST00000684442.1:n.4588G>C
ENST00000684555.1:c.*2361G>C	ENSP00000507705.1:n.*2361G>C
ENST00000684571.1:c.3990G>C	ENSP00000506935.1:p.Gly1330=
ENST00000684593.1:c.*3854G>C	ENSP00000507005.1:n.*3854G>C
ENST00000684711.1:c.*2545G>C	ENSP00000506841.1:n.*2545G>C
ENST00000302539.9:c.4152G>C	ENSP00000303960.4:p.Gly1384=
ENST00000389817.8:c.4149G>C MANE Select	ENSP00000374467.4:p.Gly1383=
ENST00000642271.1:c.4146G>C	ENSP00000493749.1:p.Gly1382=
ENST00000642579.1:c.2203G>C
ENST00000642611.1:n.5234G>C
ENST00000642902.1:c.3931G>C
ENST00000643260.1:c.4149G>C	ENSP00000494450.1:p.Gly1383=
ENST00000643562.1:c.*2271G>C	ENSP00000496124.1:n.*2271G>C
ENST00000643925.1:c.2789G>C
ENST00000644057.1:n.226G>C
ENST00000644484.1:c.*3535G>C	ENSP00000493558.1:n.*3535G>C
ENST00000644675.1:c.*2321G>C	ENSP00000494567.1:n.*2321G>C
ENST00000644757.1:c.*3202+363G>C	ENSP00000495085.1:n.*3202+363G>C
ENST00000644772.1:c.4215G>C	ENSP00000494321.1:p.Gly1405=
ENST00000645004.1:n.1842G>C
ENST00000645076.1:c.3348G>C
ENST00000645417.1:c.1337G>C
ENST00000645744.1:c.*3914G>C	ENSP00000494564.1:n.*3914G>C
ENST00000645760.1:c.4570G>C
ENST00000645884.1:c.*1432G>C	ENSP00000495516.1:n.*1432G>C
ENST00000646003.1:c.*2251G>C	ENSP00000495259.1:n.*2251G>C
ENST00000646207.1:c.*2986G>C	ENSP00000495025.1:n.*2986G>C
ENST00000646276.1:c.*3553G>C	ENSP00000496070.1:n.*3553G>C
ENST00000646592.1:c.3455G>C
ENST00000646902.1:c.4116G>C	ENSP00000494101.1:p.Gly1372=
ENST00000646993.1:c.*2691G>C	ENSP00000493720.1:n.*2691G>C
ENST00000647013.1:c.4155G>C	ENSP00000496741.1:n.4155G>C
ENST00000647015.1:c.3900G>C	ENSP00000495389.1:p.Gly1300=
ENST00000647086.1:c.*3735G>C	ENSP00000493677.1:n.*3735G>C
ENST00000647158.1:c.*2436G>C	ENSP00000495744.1:n.*2436G>C
ENST00000302539.8:c.4152G>C	ENSP00000303960.4:p.Gly1384=
ENST00000389817.7:c.4149G>C	ENSP00000374467.3:p.Gly1383=
ENST00000525022.1:n.15G>C
ENST00000526168.5:c.17G>C
NM_000352.4:c.4149G>C	NP_000343.2:p.Gly1383=
NM_001287174.1:c.4152G>C	NP_001274103.1:p.Gly1384=
XM_011520331.1:c.4149G>C	XP_011518633.1:p.Gly1383=
XM_011520332.1:c.4152G>C	XP_011518634.1:p.Gly1384=
XM_011520333.1:c.2649G>C	XP_011518635.1:p.Gly883=
XR_930890.1:n.4215G>C
NM_001351295.1:c.4215G>C	NP_001338224.1:p.Gly1405=
NM_001351296.1:c.4149G>C	NP_001338225.1:p.Gly1383=
NM_001351297.1:c.4146G>C	NP_001338226.1:p.Gly1382=
NR_147094.1:n.4444G>C
XM_017018197.2:c.4218G>C	XP_016873686.1:p.Gly1406=
XM_017018199.1:c.4215G>C	XP_016873688.1:p.Gly1405=
XM_017018201.2:c.4218G>C	XP_016873690.1:p.Gly1406=
XM_017018202.1:c.2715G>C	XP_016873691.1:p.Gly905=
XM_017018204.1:c.2106G>C	XP_016873693.1:p.Gly702=
XM_024448668.1:c.2517G>C	XP_024304436.1:p.Gly839=
XR_001747945.2:n.4290G>C
XR_001747946.2:n.4221G>C
XR_002957189.1:n.5871G>C
NM_000352.6:c.4149G>C MANE Select	NP_000343.2:p.Gly1383=
NM_001287174.2:c.4152G>C	NP_001274103.1:p.Gly1384=
NM_001351295.2:c.4215G>C	NP_001338224.1:p.Gly1405=
NM_001351296.2:c.4149G>C	NP_001338225.1:p.Gly1383=
NM_001351297.2:c.4146G>C	NP_001338226.1:p.Gly1382=
NR_147094.2:n.4444G>C
NM_001287174.3:c.4152G>C	NP_001274103.1:p.Gly1384=