Canonical Allele Identifier: CA379783484

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415909C>G (hg19) ; chr11:g.17394362C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394362C>G , CM000673.2:g.17394362C>G	GRCh38
NC_000011.9:g.17415909C>G , CM000673.1:g.17415909C>G	GRCh37
NC_000011.8:g.17372485C>G	NCBI36
NG_008867.1:g.87541G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4050G>C
ENST00000526037.6:n.384G>C
ENST00000528374.2:c.1040G>C
ENST00000529967.6:n.2788G>C
ENST00000532220.2:n.3682G>C
ENST00000642611.2:n.5782G>C
ENST00000644057.2:n.1025G>C
ENST00000645004.2:n.1948G>C
ENST00000682051.1:n.4611G>C
ENST00000682110.1:n.4664G>C
ENST00000682140.1:c.*235G>C	ENSP00000507829.1:n.*235G>C
ENST00000682185.1:n.5754G>C
ENST00000682204.1:c.*2587G>C	ENSP00000507094.1:n.*2587G>C
ENST00000682215.1:n.5031G>C
ENST00000682288.1:c.*2880G>C	ENSP00000507506.1:n.*2880G>C
ENST00000682442.1:n.4884G>C
ENST00000682528.1:n.4741G>C
ENST00000682673.1:n.4608G>C
ENST00000682805.1:n.5069G>C
ENST00000682965.1:c.*871G>C	ENSP00000508229.1:n.*871G>C
ENST00000683093.1:n.5644G>C
ENST00000683136.1:c.4332G>C	ENSP00000507768.1:p.Gln1444His
ENST00000683153.1:n.4706G>C
ENST00000683365.1:n.4766G>C
ENST00000683377.1:n.4560G>C
ENST00000683456.1:c.*1586G>C	ENSP00000508318.1:n.*1586G>C
ENST00000683522.1:n.4746G>C
ENST00000683562.1:c.*2514G>C	ENSP00000508265.1:n.*2514G>C
ENST00000683693.1:n.6125G>C
ENST00000683725.1:c.4345G>C	ENSP00000507496.1:p.Gly1449Arg
ENST00000684010.1:n.4659G>C
ENST00000684014.1:n.636G>C
ENST00000684157.1:n.5649G>C
ENST00000684253.1:n.4567G>C
ENST00000684288.1:c.*2621G>C	ENSP00000507143.1:n.*2621G>C
ENST00000684313.1:n.4096G>C
ENST00000684332.1:n.4737G>C
ENST00000684371.1:n.4770G>C
ENST00000684404.1:n.5692G>C
ENST00000684442.1:n.4888G>C
ENST00000684555.1:c.*2661G>C	ENSP00000507705.1:n.*2661G>C
ENST00000684571.1:c.4290G>C	ENSP00000506935.1:p.Gln1430His
ENST00000684593.1:c.*4154G>C	ENSP00000507005.1:n.*4154G>C
ENST00000684711.1:c.*2845G>C	ENSP00000506841.1:n.*2845G>C
ENST00000302539.9:c.4452G>C	ENSP00000303960.4:p.Gln1484His
ENST00000389817.8:c.4449G>C MANE Select	ENSP00000374467.4:p.Gln1483His
ENST00000642271.1:c.4446G>C	ENSP00000493749.1:p.Gln1482His
ENST00000642579.1:c.2503G>C
ENST00000642611.1:n.5667G>C
ENST00000642902.1:c.4231G>C
ENST00000643260.1:c.4449G>C	ENSP00000494450.1:p.Gln1483His
ENST00000643562.1:c.*2571G>C	ENSP00000496124.1:n.*2571G>C
ENST00000643925.1:c.3089G>C
ENST00000644057.1:n.608G>C
ENST00000644484.1:c.*3835G>C	ENSP00000493558.1:n.*3835G>C
ENST00000644675.1:c.*2621G>C	ENSP00000494567.1:n.*2621G>C
ENST00000644757.1:c.*3203-1382G>C	ENSP00000495085.1:n.*3203-1382G>C
ENST00000644772.1:c.4515G>C	ENSP00000494321.1:p.Gln1505His
ENST00000645004.1:n.2142G>C
ENST00000645076.1:c.3544G>C
ENST00000645417.1:c.1637G>C
ENST00000645744.1:c.*4134G>C	ENSP00000494564.1:n.*4134G>C
ENST00000645760.1:c.4870G>C
ENST00000645884.1:c.*1732G>C	ENSP00000495516.1:n.*1732G>C
ENST00000646003.1:c.*2471G>C	ENSP00000495259.1:n.*2471G>C
ENST00000646207.1:c.*3286G>C	ENSP00000495025.1:n.*3286G>C
ENST00000646276.1:c.*3853G>C	ENSP00000496070.1:n.*3853G>C
ENST00000646592.1:c.3755G>C
ENST00000646902.1:c.4416G>C	ENSP00000494101.1:p.Gln1472His
ENST00000646993.1:c.*2887G>C	ENSP00000493720.1:n.*2887G>C
ENST00000647013.1:c.4455G>C	ENSP00000496741.1:n.4455G>C
ENST00000647015.1:c.4200G>C	ENSP00000495389.1:p.Gln1400His
ENST00000647086.1:c.*4035G>C	ENSP00000493677.1:n.*4035G>C
ENST00000647158.1:c.*2736G>C	ENSP00000495744.1:n.*2736G>C
ENST00000302539.8:c.4452G>C	ENSP00000303960.4:p.Gln1484His
ENST00000389817.7:c.4449G>C	ENSP00000374467.3:p.Gln1483His
ENST00000525022.1:n.344G>C
ENST00000526037.5:n.209G>C
ENST00000526168.5:c.237G>C
ENST00000531642.5:c.480G>C
NM_000352.4:c.4449G>C	NP_000343.2:p.Gln1483His
NM_001287174.1:c.4452G>C	NP_001274103.1:p.Gln1484His
XM_011520331.1:c.4449G>C	XP_011518633.1:p.Gln1483His
XM_011520332.1:c.4348G>C	XP_011518634.1:p.Gly1450Arg
XM_011520333.1:c.2949G>C	XP_011518635.1:p.Gln983His
XR_930890.1:n.4411G>C
NM_001351295.1:c.4515G>C	NP_001338224.1:p.Gln1505His
NM_001351296.1:c.4449G>C	NP_001338225.1:p.Gln1483His
NM_001351297.1:c.4446G>C	NP_001338226.1:p.Gln1482His
NR_147094.1:n.4744G>C
XM_017018197.2:c.4518G>C	XP_016873686.1:p.Gln1506His
XM_017018199.1:c.4515G>C	XP_016873688.1:p.Gln1505His
XM_017018201.2:c.4414G>C	XP_016873690.1:p.Gly1472Arg
XM_017018202.1:c.3015G>C	XP_016873691.1:p.Gln1005His
XM_017018204.1:c.2406G>C	XP_016873693.1:p.Gln802His
XM_024448668.1:c.2817G>C	XP_024304436.1:p.Gln939His
XR_001747945.2:n.4486G>C
XR_001747946.2:n.4417G>C
XR_002957189.1:n.6200G>C
NM_000352.6:c.4449G>C MANE Select	NP_000343.2:p.Gln1483His
NM_001287174.2:c.4452G>C	NP_001274103.1:p.Gln1484His
NM_001351295.2:c.4515G>C	NP_001338224.1:p.Gln1505His
NM_001351296.2:c.4449G>C	NP_001338225.1:p.Gln1483His
NM_001351297.2:c.4446G>C	NP_001338226.1:p.Gln1482His
NR_147094.2:n.4744G>C
NM_001287174.3:c.4452G>C	NP_001274103.1:p.Gln1484His