Canonical Allele Identifier: CA473301249

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434243G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412696G>C , CM000673.2:g.17412696G>C	GRCh38
NC_000011.9:g.17434243G>C , CM000673.1:g.17434243G>C	GRCh37
NC_000011.8:g.17390819G>C	NCBI36
NG_008867.1:g.69207C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2195C>G
ENST00000529967.6:n.785C>G
ENST00000642611.2:n.2595C>G
ENST00000682051.1:n.2542C>G
ENST00000682110.1:n.2595C>G
ENST00000682140.1:c.2523C>G	ENSP00000507829.1:p.Ala841=
ENST00000682185.1:n.3831C>G
ENST00000682204.1:c.*664C>G	ENSP00000507094.1:n.*664C>G
ENST00000682215.1:n.2592C>G
ENST00000682288.1:c.*957C>G	ENSP00000507506.1:n.*957C>G
ENST00000682442.1:n.2716C>G
ENST00000682528.1:n.2592C>G
ENST00000682673.1:n.2539C>G
ENST00000682805.1:n.2592C>G
ENST00000682965.1:c.2523C>G	ENSP00000508229.1:p.Ala841=
ENST00000683093.1:n.2694C>G
ENST00000683136.1:c.2523C>G	ENSP00000507768.1:p.Ala841=
ENST00000683153.1:n.2751C>G
ENST00000683365.1:n.2697C>G
ENST00000683377.1:n.2595C>G
ENST00000683456.1:c.2526C>G	ENSP00000508318.1:p.Ala842=
ENST00000683522.1:n.2595C>G
ENST00000683562.1:c.*695C>G	ENSP00000508265.1:n.*695C>G
ENST00000683693.1:n.2592C>G
ENST00000683725.1:c.2526C>G	ENSP00000507496.1:p.Ala842=
ENST00000684010.1:n.2510C>G
ENST00000684157.1:n.2595C>G
ENST00000684253.1:n.2498C>G
ENST00000684288.1:c.*698C>G	ENSP00000507143.1:n.*698C>G
ENST00000684313.1:n.2027C>G
ENST00000684332.1:n.2668C>G
ENST00000684371.1:n.2701C>G
ENST00000684404.1:n.2592C>G
ENST00000684442.1:n.2595C>G
ENST00000684555.1:c.*738C>G	ENSP00000507705.1:n.*738C>G
ENST00000684571.1:c.2367C>G	ENSP00000506935.1:p.Ala789=
ENST00000684593.1:c.*2231C>G	ENSP00000507005.1:n.*2231C>G
ENST00000684711.1:c.*922C>G	ENSP00000506841.1:n.*922C>G
ENST00000302539.9:c.2529C>G	ENSP00000303960.4:p.Ala843=
ENST00000389817.8:c.2526C>G MANE Select	ENSP00000374467.4:p.Ala842=
ENST00000642271.1:c.2523C>G	ENSP00000493749.1:p.Ala841=
ENST00000642579.1:c.610C>G
ENST00000642611.1:n.2480C>G
ENST00000642902.1:c.2361C>G
ENST00000643260.1:c.2526C>G	ENSP00000494450.1:p.Ala842=
ENST00000643562.1:c.*502C>G	ENSP00000496124.1:n.*502C>G
ENST00000643925.1:c.570C>G
ENST00000644447.1:c.882C>G	ENSP00000496282.1:p.Ala294=
ENST00000644472.1:c.*887C>G	ENSP00000495378.1:n.*887C>G
ENST00000644484.1:c.*735C>G	ENSP00000493558.1:n.*735C>G
ENST00000644542.1:c.*2231C>G	ENSP00000495532.1:n.*2231C>G
ENST00000644675.1:c.*698C>G	ENSP00000494567.1:n.*698C>G
ENST00000644757.1:c.*831C>G	ENSP00000495085.1:n.*831C>G
ENST00000644772.1:c.2592C>G	ENSP00000494321.1:p.Ala864=
ENST00000645076.1:c.1778C>G
ENST00000645744.1:c.*890C>G	ENSP00000494564.1:n.*890C>G
ENST00000645760.1:c.2801C>G
ENST00000645884.1:c.2526C>G	ENSP00000495516.1:p.Ala842=
ENST00000646003.1:c.*582C>G	ENSP00000495259.1:n.*582C>G
ENST00000646207.1:c.*890C>G	ENSP00000495025.1:n.*890C>G
ENST00000646276.1:c.*799C>G	ENSP00000496070.1:n.*799C>G
ENST00000646592.1:c.1752C>G
ENST00000646902.1:c.2523C>G	ENSP00000494101.1:p.Ala841=
ENST00000646993.1:c.*922C>G	ENSP00000493720.1:n.*922C>G
ENST00000647013.1:c.2532C>G	ENSP00000496741.1:n.2532C>G
ENST00000647015.1:c.2277C>G	ENSP00000495389.1:p.Ala759=
ENST00000647086.1:c.*2256C>G	ENSP00000493677.1:n.*2256C>G
ENST00000647158.1:c.*667C>G	ENSP00000495744.1:n.*667C>G
ENST00000302539.8:c.2529C>G	ENSP00000303960.4:p.Ala843=
ENST00000389817.7:c.2526C>G	ENSP00000374467.3:p.Ala842=
ENST00000526921.5:n.210C>G
ENST00000527905.5:c.2496C>G	ENSP00000431653.1:p.Ala832=
ENST00000529967.5:n.195C>G
ENST00000530147.5:n.109C>G
ENST00000531911.1:n.640C>G
NM_000352.4:c.2526C>G	NP_000343.2:p.Ala842=
NM_001287174.1:c.2529C>G	NP_001274103.1:p.Ala843=
XM_011520331.1:c.2526C>G	XP_011518633.1:p.Ala842=
XM_011520332.1:c.2529C>G	XP_011518634.1:p.Ala843=
XM_011520333.1:c.1026C>G	XP_011518635.1:p.Ala342=
XM_011520334.1:c.2529C>G	XP_011518636.1:p.Ala843=
XR_930890.1:n.2592C>G
XR_930891.1:n.2592C>G
XR_930892.1:n.2592C>G
XR_930893.1:n.2589C>G
NM_001351295.1:c.2592C>G	NP_001338224.1:p.Ala864=
NM_001351296.1:c.2526C>G	NP_001338225.1:p.Ala842=
NM_001351297.1:c.2523C>G	NP_001338226.1:p.Ala841=
NR_147094.1:n.2595C>G
XM_017018197.2:c.2595C>G	XP_016873686.1:p.Ala865=
XM_017018199.1:c.2592C>G	XP_016873688.1:p.Ala864=
XM_017018201.2:c.2595C>G	XP_016873690.1:p.Ala865=
XM_017018202.1:c.1092C>G	XP_016873691.1:p.Ala364=
XM_017018204.1:c.483C>G	XP_016873693.1:p.Ala161=
XM_024448668.1:c.894C>G	XP_024304436.1:p.Ala298=
XR_001747945.2:n.2667C>G
XR_001747946.2:n.2598C>G
XR_002957189.1:n.2667C>G
NM_000352.6:c.2526C>G MANE Select	NP_000343.2:p.Ala842=
NM_001287174.2:c.2529C>G	NP_001274103.1:p.Ala843=
NM_001351295.2:c.2592C>G	NP_001338224.1:p.Ala864=
NM_001351296.2:c.2526C>G	NP_001338225.1:p.Ala842=
NM_001351297.2:c.2523C>G	NP_001338226.1:p.Ala841=
NR_147094.2:n.2595C>G
NM_001287174.3:c.2529C>G	NP_001274103.1:p.Ala843=