Canonical Allele Identifier: CA473301268

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17412711-G-T
• MyVariant Identifiers: chr11:g.17434258G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412711G>T , CM000673.2:g.17412711G>T	GRCh38
NC_000011.9:g.17434258G>T , CM000673.1:g.17434258G>T	GRCh37
NC_000011.8:g.17390834G>T	NCBI36
NG_008867.1:g.69192C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2180C>A
ENST00000529967.6:n.770C>A
ENST00000642611.2:n.2580C>A
ENST00000682051.1:n.2527C>A
ENST00000682110.1:n.2580C>A
ENST00000682140.1:c.2508C>A	ENSP00000507829.1:p.Ile836=
ENST00000682185.1:n.3816C>A
ENST00000682204.1:c.*649C>A	ENSP00000507094.1:n.*649C>A
ENST00000682215.1:n.2577C>A
ENST00000682288.1:c.*942C>A	ENSP00000507506.1:n.*942C>A
ENST00000682442.1:n.2701C>A
ENST00000682528.1:n.2577C>A
ENST00000682673.1:n.2524C>A
ENST00000682805.1:n.2577C>A
ENST00000682965.1:c.2508C>A	ENSP00000508229.1:p.Ile836=
ENST00000683093.1:n.2679C>A
ENST00000683136.1:c.2508C>A	ENSP00000507768.1:p.Ile836=
ENST00000683153.1:n.2736C>A
ENST00000683365.1:n.2682C>A
ENST00000683377.1:n.2580C>A
ENST00000683456.1:c.2511C>A	ENSP00000508318.1:p.Ile837=
ENST00000683522.1:n.2580C>A
ENST00000683562.1:c.*680C>A	ENSP00000508265.1:n.*680C>A
ENST00000683693.1:n.2577C>A
ENST00000683725.1:c.2511C>A	ENSP00000507496.1:p.Ile837=
ENST00000684010.1:n.2495C>A
ENST00000684157.1:n.2580C>A
ENST00000684253.1:n.2483C>A
ENST00000684288.1:c.*683C>A	ENSP00000507143.1:n.*683C>A
ENST00000684313.1:n.2012C>A
ENST00000684332.1:n.2653C>A
ENST00000684371.1:n.2686C>A
ENST00000684404.1:n.2577C>A
ENST00000684442.1:n.2580C>A
ENST00000684555.1:c.*723C>A	ENSP00000507705.1:n.*723C>A
ENST00000684571.1:c.2352C>A	ENSP00000506935.1:p.Ile784=
ENST00000684593.1:c.*2216C>A	ENSP00000507005.1:n.*2216C>A
ENST00000684711.1:c.*907C>A	ENSP00000506841.1:n.*907C>A
ENST00000302539.9:c.2514C>A	ENSP00000303960.4:p.Ile838=
ENST00000389817.8:c.2511C>A MANE Select	ENSP00000374467.4:p.Ile837=
ENST00000642271.1:c.2508C>A	ENSP00000493749.1:p.Ile836=
ENST00000642579.1:c.595C>A
ENST00000642611.1:n.2465C>A
ENST00000642902.1:c.2346C>A
ENST00000643260.1:c.2511C>A	ENSP00000494450.1:p.Ile837=
ENST00000643562.1:c.*487C>A	ENSP00000496124.1:n.*487C>A
ENST00000643925.1:c.555C>A
ENST00000644447.1:c.867C>A	ENSP00000496282.1:p.Ile289=
ENST00000644472.1:c.*872C>A	ENSP00000495378.1:n.*872C>A
ENST00000644484.1:c.*720C>A	ENSP00000493558.1:n.*720C>A
ENST00000644542.1:c.*2216C>A	ENSP00000495532.1:n.*2216C>A
ENST00000644675.1:c.*683C>A	ENSP00000494567.1:n.*683C>A
ENST00000644757.1:c.*816C>A	ENSP00000495085.1:n.*816C>A
ENST00000644772.1:c.2577C>A	ENSP00000494321.1:p.Ile859=
ENST00000645076.1:c.1763C>A
ENST00000645744.1:c.*875C>A	ENSP00000494564.1:n.*875C>A
ENST00000645760.1:c.2786C>A
ENST00000645884.1:c.2511C>A	ENSP00000495516.1:p.Ile837=
ENST00000646003.1:c.*567C>A	ENSP00000495259.1:n.*567C>A
ENST00000646207.1:c.*875C>A	ENSP00000495025.1:n.*875C>A
ENST00000646276.1:c.*784C>A	ENSP00000496070.1:n.*784C>A
ENST00000646592.1:c.1737C>A
ENST00000646902.1:c.2508C>A	ENSP00000494101.1:p.Ile836=
ENST00000646993.1:c.*907C>A	ENSP00000493720.1:n.*907C>A
ENST00000647013.1:c.2517C>A	ENSP00000496741.1:n.2517C>A
ENST00000647015.1:c.2262C>A	ENSP00000495389.1:p.Ile754=
ENST00000647086.1:c.*2241C>A	ENSP00000493677.1:n.*2241C>A
ENST00000647158.1:c.*652C>A	ENSP00000495744.1:n.*652C>A
ENST00000302539.8:c.2514C>A	ENSP00000303960.4:p.Ile838=
ENST00000389817.7:c.2511C>A	ENSP00000374467.3:p.Ile837=
ENST00000526921.5:n.195C>A
ENST00000527905.5:c.2481C>A	ENSP00000431653.1:p.Ile827=
ENST00000529967.5:n.180C>A
ENST00000530147.5:n.94C>A
ENST00000531911.1:n.625C>A
NM_000352.4:c.2511C>A	NP_000343.2:p.Ile837=
NM_001287174.1:c.2514C>A	NP_001274103.1:p.Ile838=
XM_011520331.1:c.2511C>A	XP_011518633.1:p.Ile837=
XM_011520332.1:c.2514C>A	XP_011518634.1:p.Ile838=
XM_011520333.1:c.1011C>A	XP_011518635.1:p.Ile337=
XM_011520334.1:c.2514C>A	XP_011518636.1:p.Ile838=
XR_930890.1:n.2577C>A
XR_930891.1:n.2577C>A
XR_930892.1:n.2577C>A
XR_930893.1:n.2574C>A
NM_001351295.1:c.2577C>A	NP_001338224.1:p.Ile859=
NM_001351296.1:c.2511C>A	NP_001338225.1:p.Ile837=
NM_001351297.1:c.2508C>A	NP_001338226.1:p.Ile836=
NR_147094.1:n.2580C>A
XM_017018197.2:c.2580C>A	XP_016873686.1:p.Ile860=
XM_017018199.1:c.2577C>A	XP_016873688.1:p.Ile859=
XM_017018201.2:c.2580C>A	XP_016873690.1:p.Ile860=
XM_017018202.1:c.1077C>A	XP_016873691.1:p.Ile359=
XM_017018204.1:c.468C>A	XP_016873693.1:p.Ile156=
XM_024448668.1:c.879C>A	XP_024304436.1:p.Ile293=
XR_001747945.2:n.2652C>A
XR_001747946.2:n.2583C>A
XR_002957189.1:n.2652C>A
NM_000352.6:c.2511C>A MANE Select	NP_000343.2:p.Ile837=
NM_001287174.2:c.2514C>A	NP_001274103.1:p.Ile838=
NM_001351295.2:c.2577C>A	NP_001338224.1:p.Ile859=
NM_001351296.2:c.2511C>A	NP_001338225.1:p.Ile837=
NM_001351297.2:c.2508C>A	NP_001338226.1:p.Ile836=
NR_147094.2:n.2580C>A
NM_001287174.3:c.2514C>A	NP_001274103.1:p.Ile838=