Canonical Allele Identifier: CA379790607

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418522C>G (hg19) ; chr11:g.17396975C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396975C>G , CM000673.2:g.17396975C>G	GRCh38
NC_000011.9:g.17418522C>G , CM000673.1:g.17418522C>G	GRCh37
NC_000011.8:g.17375098C>G	NCBI36
NG_008867.1:g.84928G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3661G>C
ENST00000528374.2:c.651G>C
ENST00000529967.6:n.2399G>C
ENST00000532220.2:n.2308G>C
ENST00000642611.2:n.4275G>C
ENST00000644057.2:n.503G>C
ENST00000645004.2:n.1559G>C
ENST00000682051.1:n.4222G>C
ENST00000682110.1:n.4275G>C
ENST00000682140.1:c.3985+218G>C	ENSP00000507829.1:n.3985+218G>C
ENST00000682185.1:n.5365G>C
ENST00000682204.1:c.*2198G>C	ENSP00000507094.1:n.*2198G>C
ENST00000682215.1:n.4642G>C
ENST00000682288.1:c.*2491G>C	ENSP00000507506.1:n.*2491G>C
ENST00000682442.1:n.4495G>C
ENST00000682528.1:n.4352G>C
ENST00000682673.1:n.4219G>C
ENST00000682805.1:n.4642G>C
ENST00000682965.1:c.*482G>C	ENSP00000508229.1:n.*482G>C
ENST00000683093.1:n.4374G>C
ENST00000683136.1:c.3943G>C	ENSP00000507768.1:p.Asp1315His
ENST00000683153.1:n.4317G>C
ENST00000683365.1:n.4377G>C
ENST00000683377.1:n.4275G>C
ENST00000683456.1:c.*1197G>C	ENSP00000508318.1:n.*1197G>C
ENST00000683522.1:n.4275G>C
ENST00000683562.1:c.*2229G>C	ENSP00000508265.1:n.*2229G>C
ENST00000683693.1:n.4722G>C
ENST00000683725.1:c.4060G>C	ENSP00000507496.1:p.Asp1354His
ENST00000684010.1:n.4270G>C
ENST00000684157.1:n.4275G>C
ENST00000684253.1:n.4178G>C
ENST00000684288.1:c.*2232G>C	ENSP00000507143.1:n.*2232G>C
ENST00000684313.1:n.3707G>C
ENST00000684332.1:n.4348G>C
ENST00000684371.1:n.4381G>C
ENST00000684404.1:n.4318G>C
ENST00000684442.1:n.4499G>C
ENST00000684555.1:c.*2272G>C	ENSP00000507705.1:n.*2272G>C
ENST00000684571.1:c.3901G>C	ENSP00000506935.1:p.Asp1301His
ENST00000684593.1:c.*3765G>C	ENSP00000507005.1:n.*3765G>C
ENST00000684711.1:c.*2456G>C	ENSP00000506841.1:n.*2456G>C
ENST00000302539.9:c.4063G>C	ENSP00000303960.4:p.Asp1355His
ENST00000389817.8:c.4060G>C MANE Select	ENSP00000374467.4:p.Asp1354His
ENST00000642271.1:c.4057G>C	ENSP00000493749.1:p.Asp1353His
ENST00000642579.1:c.2114G>C
ENST00000642611.1:n.4160G>C
ENST00000642902.1:c.3842G>C
ENST00000643260.1:c.4060G>C	ENSP00000494450.1:p.Asp1354His
ENST00000643562.1:c.*2182G>C	ENSP00000496124.1:n.*2182G>C
ENST00000643925.1:c.2700G>C
ENST00000644057.1:n.137G>C
ENST00000644484.1:c.*2461G>C	ENSP00000493558.1:n.*2461G>C
ENST00000644675.1:c.*2232G>C	ENSP00000494567.1:n.*2232G>C
ENST00000644757.1:c.*2491G>C	ENSP00000495085.1:n.*2491G>C
ENST00000644772.1:c.4126G>C	ENSP00000494321.1:p.Asp1376His
ENST00000645004.1:n.1715G>C
ENST00000645076.1:c.3259G>C
ENST00000645417.1:c.1248G>C
ENST00000645744.1:c.*2840G>C	ENSP00000494564.1:n.*2840G>C
ENST00000645760.1:c.4481G>C
ENST00000645884.1:c.*1343G>C	ENSP00000495516.1:n.*1343G>C
ENST00000646003.1:c.*2162G>C	ENSP00000495259.1:n.*2162G>C
ENST00000646207.1:c.*2897G>C	ENSP00000495025.1:n.*2897G>C
ENST00000646276.1:c.*2479G>C	ENSP00000496070.1:n.*2479G>C
ENST00000646592.1:c.3366G>C
ENST00000646902.1:c.4027G>C	ENSP00000494101.1:p.Asp1343His
ENST00000646993.1:c.*2602G>C	ENSP00000493720.1:n.*2602G>C
ENST00000647013.1:c.4066G>C	ENSP00000496741.1:n.4066G>C
ENST00000647015.1:c.3811G>C	ENSP00000495389.1:p.Asp1271His
ENST00000647086.1:c.*3646G>C	ENSP00000493677.1:n.*3646G>C
ENST00000647158.1:c.*2347G>C	ENSP00000495744.1:n.*2347G>C
ENST00000302539.8:c.4063G>C	ENSP00000303960.4:p.Asp1355His
ENST00000389817.7:c.4060G>C	ENSP00000374467.3:p.Asp1354His
ENST00000527905.5:c.*1082G>C	ENSP00000431653.1:n.*1082G>C
ENST00000528374.1:c.542G>C
ENST00000531137.1:n.625G>C
ENST00000531891.1:c.398G>C
ENST00000532220.1:n.534G>C
NM_000352.4:c.4060G>C	NP_000343.2:p.Asp1354His
NM_001287174.1:c.4063G>C	NP_001274103.1:p.Asp1355His
XM_011520331.1:c.4060G>C	XP_011518633.1:p.Asp1354His
XM_011520332.1:c.4063G>C	XP_011518634.1:p.Asp1355His
XM_011520333.1:c.2560G>C	XP_011518635.1:p.Asp854His
XR_930890.1:n.4126G>C
NM_001351295.1:c.4126G>C	NP_001338224.1:p.Asp1376His
NM_001351296.1:c.4060G>C	NP_001338225.1:p.Asp1354His
NM_001351297.1:c.4057G>C	NP_001338226.1:p.Asp1353His
NR_147094.1:n.4355G>C
XM_017018197.2:c.4129G>C	XP_016873686.1:p.Asp1377His
XM_017018199.1:c.4126G>C	XP_016873688.1:p.Asp1376His
XM_017018201.2:c.4129G>C	XP_016873690.1:p.Asp1377His
XM_017018202.1:c.2626G>C	XP_016873691.1:p.Asp876His
XM_017018204.1:c.2017G>C	XP_016873693.1:p.Asp673His
XM_024448668.1:c.2428G>C	XP_024304436.1:p.Asp810His
XR_001747945.2:n.4201G>C
XR_001747946.2:n.4132G>C
XR_002957189.1:n.4797G>C
NM_000352.6:c.4060G>C MANE Select	NP_000343.2:p.Asp1354His
NM_001287174.2:c.4063G>C	NP_001274103.1:p.Asp1355His
NM_001351295.2:c.4126G>C	NP_001338224.1:p.Asp1376His
NM_001351296.2:c.4060G>C	NP_001338225.1:p.Asp1354His
NM_001351297.2:c.4057G>C	NP_001338226.1:p.Asp1353His
NR_147094.2:n.4355G>C
NM_001287174.3:c.4063G>C	NP_001274103.1:p.Asp1355His