Canonical Allele Identifier: CA379782693

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415818C>A (hg19) ; chr11:g.17394271C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394271C>A , CM000673.2:g.17394271C>A	GRCh38
NC_000011.9:g.17415818C>A , CM000673.1:g.17415818C>A	GRCh37
NC_000011.8:g.17372394C>A	NCBI36
NG_008867.1:g.87632G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4141G>T
ENST00000526037.6:n.475G>T
ENST00000528374.2:c.1131G>T
ENST00000529967.6:n.2879G>T
ENST00000532220.2:n.3773G>T
ENST00000642611.2:n.5873G>T
ENST00000644057.2:n.1116G>T
ENST00000645004.2:n.2039G>T
ENST00000682051.1:n.4702G>T
ENST00000682110.1:n.4755G>T
ENST00000682140.1:c.*326G>T	ENSP00000507829.1:n.*326G>T
ENST00000682185.1:n.5845G>T
ENST00000682204.1:c.*2678G>T	ENSP00000507094.1:n.*2678G>T
ENST00000682215.1:n.5122G>T
ENST00000682288.1:c.*2971G>T	ENSP00000507506.1:n.*2971G>T
ENST00000682442.1:n.4975G>T
ENST00000682528.1:n.4832G>T
ENST00000682673.1:n.4699G>T
ENST00000682805.1:n.5160G>T
ENST00000682965.1:c.*962G>T	ENSP00000508229.1:n.*962G>T
ENST00000683093.1:n.5735G>T
ENST00000683136.1:c.4423G>T	ENSP00000507768.1:p.Ala1475Ser
ENST00000683153.1:n.4797G>T
ENST00000683365.1:n.4857G>T
ENST00000683377.1:n.4651G>T
ENST00000683456.1:c.*1677G>T	ENSP00000508318.1:n.*1677G>T
ENST00000683522.1:n.4837G>T
ENST00000683562.1:c.*2605G>T	ENSP00000508265.1:n.*2605G>T
ENST00000683693.1:n.6216G>T
ENST00000683725.1:c.*5G>T	ENSP00000507496.1:n.*5G>T
ENST00000684010.1:n.4750G>T
ENST00000684014.1:n.727G>T
ENST00000684157.1:n.5740G>T
ENST00000684253.1:n.4658G>T
ENST00000684288.1:c.*2712G>T	ENSP00000507143.1:n.*2712G>T
ENST00000684313.1:n.4187G>T
ENST00000684332.1:n.4828G>T
ENST00000684371.1:n.4861G>T
ENST00000684404.1:n.5783G>T
ENST00000684442.1:n.4979G>T
ENST00000684555.1:c.*2752G>T	ENSP00000507705.1:n.*2752G>T
ENST00000684571.1:c.4381G>T	ENSP00000506935.1:p.Ala1461Ser
ENST00000684593.1:c.*4245G>T	ENSP00000507005.1:n.*4245G>T
ENST00000684711.1:c.*2936G>T	ENSP00000506841.1:n.*2936G>T
ENST00000302539.9:c.4543G>T	ENSP00000303960.4:p.Ala1515Ser
ENST00000389817.8:c.4540G>T MANE Select	ENSP00000374467.4:p.Ala1514Ser
ENST00000642271.1:c.4537G>T	ENSP00000493749.1:p.Ala1513Ser
ENST00000642579.1:c.2594G>T
ENST00000642611.1:n.5758G>T
ENST00000642902.1:c.4322G>T
ENST00000643260.1:c.4540G>T	ENSP00000494450.1:p.Ala1514Ser
ENST00000643562.1:c.*2662G>T	ENSP00000496124.1:n.*2662G>T
ENST00000643925.1:c.3180G>T
ENST00000644057.1:n.699G>T
ENST00000644484.1:c.*3926G>T	ENSP00000493558.1:n.*3926G>T
ENST00000644675.1:c.*2712G>T	ENSP00000494567.1:n.*2712G>T
ENST00000644757.1:c.*3203-1291G>T	ENSP00000495085.1:n.*3203-1291G>T
ENST00000644772.1:c.4606G>T	ENSP00000494321.1:p.Ala1536Ser
ENST00000645004.1:n.2233G>T
ENST00000645076.1:c.3635G>T
ENST00000645417.1:c.1728G>T
ENST00000645744.1:c.*4225G>T	ENSP00000494564.1:n.*4225G>T
ENST00000645760.1:c.4961G>T
ENST00000645884.1:c.*1823G>T	ENSP00000495516.1:n.*1823G>T
ENST00000646003.1:c.*2562G>T	ENSP00000495259.1:n.*2562G>T
ENST00000646207.1:c.*3377G>T	ENSP00000495025.1:n.*3377G>T
ENST00000646276.1:c.*3944G>T	ENSP00000496070.1:n.*3944G>T
ENST00000646592.1:c.3846G>T
ENST00000646902.1:c.4507G>T	ENSP00000494101.1:p.Ala1503Ser
ENST00000646993.1:c.*2978G>T	ENSP00000493720.1:n.*2978G>T
ENST00000647015.1:c.4291G>T	ENSP00000495389.1:p.Ala1431Ser
ENST00000647086.1:c.*4126G>T	ENSP00000493677.1:n.*4126G>T
ENST00000647158.1:c.*2827G>T	ENSP00000495744.1:n.*2827G>T
ENST00000302539.8:c.4543G>T	ENSP00000303960.4:p.Ala1515Ser
ENST00000389817.7:c.4540G>T	ENSP00000374467.3:p.Ala1514Ser
ENST00000525022.1:n.435G>T
ENST00000526037.5:n.300G>T
ENST00000526168.5:c.328G>T
ENST00000531642.5:c.571G>T
NM_000352.4:c.4540G>T	NP_000343.2:p.Ala1514Ser
NM_001287174.1:c.4543G>T	NP_001274103.1:p.Ala1515Ser
XM_011520331.1:c.4540G>T	XP_011518633.1:p.Ala1514Ser
XM_011520332.1:c.*5G>T	XP_011518634.1:n.*5G>T
XM_011520333.1:c.3040G>T	XP_011518635.1:p.Ala1014Ser
XR_930890.1:n.4502G>T
NM_001351295.1:c.4606G>T	NP_001338224.1:p.Ala1536Ser
NM_001351296.1:c.4540G>T	NP_001338225.1:p.Ala1514Ser
NM_001351297.1:c.4537G>T	NP_001338226.1:p.Ala1513Ser
NR_147094.1:n.4835G>T
XM_017018197.2:c.4609G>T	XP_016873686.1:p.Ala1537Ser
XM_017018199.1:c.4606G>T	XP_016873688.1:p.Ala1536Ser
XM_017018201.2:c.*5G>T	XP_016873690.1:n.*5G>T
XM_017018202.1:c.3106G>T	XP_016873691.1:p.Ala1036Ser
XM_017018204.1:c.2497G>T	XP_016873693.1:p.Ala833Ser
XM_024448668.1:c.2908G>T	XP_024304436.1:p.Ala970Ser
XR_001747945.2:n.4577G>T
XR_001747946.2:n.4508G>T
XR_002957189.1:n.6291G>T
NM_000352.6:c.4540G>T MANE Select	NP_000343.2:p.Ala1514Ser
NM_001287174.2:c.4543G>T	NP_001274103.1:p.Ala1515Ser
NM_001351295.2:c.4606G>T	NP_001338224.1:p.Ala1536Ser
NM_001351296.2:c.4540G>T	NP_001338225.1:p.Ala1514Ser
NM_001351297.2:c.4537G>T	NP_001338226.1:p.Ala1513Ser
NR_147094.2:n.4835G>T
NM_001287174.3:c.4543G>T	NP_001274103.1:p.Ala1515Ser