Canonical Allele Identifier: CA473515969

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428312G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406765G>C , CM000673.2:g.17406765G>C	GRCh38
NC_000011.9:g.17428312G>C , CM000673.1:g.17428312G>C	GRCh37
NC_000011.8:g.17384888G>C	NCBI36
NG_008867.1:g.75138C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2755C>G
ENST00000529967.6:n.1525C>G
ENST00000532220.2:n.918C>G
ENST00000642611.2:n.3255C>G
ENST00000645004.2:n.685C>G
ENST00000682051.1:n.3202C>G
ENST00000682110.1:n.3255C>G
ENST00000682140.1:c.3183C>G	ENSP00000507829.1:p.Val1061=
ENST00000682185.1:n.4491C>G
ENST00000682204.1:c.*1324C>G	ENSP00000507094.1:n.*1324C>G
ENST00000682215.1:n.3252C>G
ENST00000682288.1:c.*1617C>G	ENSP00000507506.1:n.*1617C>G
ENST00000682442.1:n.3475C>G
ENST00000682528.1:n.3332C>G
ENST00000682673.1:n.3199C>G
ENST00000682805.1:n.3252C>G
ENST00000682965.1:c.3183C>G	ENSP00000508229.1:p.Val1061=
ENST00000683093.1:n.3354C>G
ENST00000683136.1:c.3183C>G	ENSP00000507768.1:p.Val1061=
ENST00000683153.1:n.3411C>G
ENST00000683365.1:n.3357C>G
ENST00000683377.1:n.3255C>G
ENST00000683456.1:c.*323C>G	ENSP00000508318.1:n.*323C>G
ENST00000683522.1:n.3255C>G
ENST00000683562.1:c.*1355C>G	ENSP00000508265.1:n.*1355C>G
ENST00000683693.1:n.3332C>G
ENST00000683725.1:c.3186C>G	ENSP00000507496.1:p.Val1062=
ENST00000684010.1:n.3250C>G
ENST00000684157.1:n.3255C>G
ENST00000684253.1:n.3158C>G
ENST00000684288.1:c.*1358C>G	ENSP00000507143.1:n.*1358C>G
ENST00000684313.1:n.2687C>G
ENST00000684332.1:n.3328C>G
ENST00000684371.1:n.3361C>G
ENST00000684404.1:n.3298C>G
ENST00000684442.1:n.3255C>G
ENST00000684555.1:c.*1398C>G	ENSP00000507705.1:n.*1398C>G
ENST00000684571.1:c.3027C>G	ENSP00000506935.1:p.Val1009=
ENST00000684593.1:c.*2891C>G	ENSP00000507005.1:n.*2891C>G
ENST00000684711.1:c.*1582C>G	ENSP00000506841.1:n.*1582C>G
ENST00000302539.9:c.3189C>G	ENSP00000303960.4:p.Val1063=
ENST00000389817.8:c.3186C>G MANE Select	ENSP00000374467.4:p.Val1062=
ENST00000642271.1:c.3183C>G	ENSP00000493749.1:p.Val1061=
ENST00000642579.1:c.1270C>G
ENST00000642611.1:n.3140C>G
ENST00000642902.1:c.2968C>G
ENST00000643260.1:c.3186C>G	ENSP00000494450.1:p.Val1062=
ENST00000643562.1:c.*1162C>G	ENSP00000496124.1:n.*1162C>G
ENST00000643925.1:c.1310C>G
ENST00000644447.1:c.1542C>G	ENSP00000496282.1:p.Val514=
ENST00000644484.1:c.*1441C>G	ENSP00000493558.1:n.*1441C>G
ENST00000644542.1:c.*2990C>G	ENSP00000495532.1:n.*2990C>G
ENST00000644675.1:c.*1358C>G	ENSP00000494567.1:n.*1358C>G
ENST00000644757.1:c.*1471C>G	ENSP00000495085.1:n.*1471C>G
ENST00000644772.1:c.3252C>G	ENSP00000494321.1:p.Val1084=
ENST00000645004.1:n.325C>G
ENST00000645076.1:c.2385C>G
ENST00000645417.1:c.352C>G
ENST00000645744.1:c.*1450C>G	ENSP00000494564.1:n.*1450C>G
ENST00000645760.1:c.3461C>G
ENST00000645884.1:c.*323C>G	ENSP00000495516.1:n.*323C>G
ENST00000646003.1:c.*1142C>G	ENSP00000495259.1:n.*1142C>G
ENST00000646207.1:c.*1653C>G	ENSP00000495025.1:n.*1653C>G
ENST00000646276.1:c.*1459C>G	ENSP00000496070.1:n.*1459C>G
ENST00000646592.1:c.2492C>G
ENST00000646902.1:c.3183C>G	ENSP00000494101.1:p.Val1061=
ENST00000646993.1:c.*1582C>G	ENSP00000493720.1:n.*1582C>G
ENST00000647013.1:c.3192C>G	ENSP00000496741.1:n.3192C>G
ENST00000647015.1:c.2937C>G	ENSP00000495389.1:p.Val979=
ENST00000647086.1:c.*2916C>G	ENSP00000493677.1:n.*2916C>G
ENST00000647158.1:c.*1327C>G	ENSP00000495744.1:n.*1327C>G
ENST00000302539.8:c.3189C>G	ENSP00000303960.4:p.Val1063=
ENST00000389817.7:c.3186C>G	ENSP00000374467.3:p.Val1062=
ENST00000524561.1:n.318C>G
ENST00000526921.5:n.870C>G
ENST00000527905.5:c.*62C>G	ENSP00000431653.1:n.*62C>G
NM_000352.4:c.3186C>G	NP_000343.2:p.Val1062=
NM_001287174.1:c.3189C>G	NP_001274103.1:p.Val1063=
XM_011520331.1:c.3186C>G	XP_011518633.1:p.Val1062=
XM_011520332.1:c.3189C>G	XP_011518634.1:p.Val1063=
XM_011520333.1:c.1686C>G	XP_011518635.1:p.Val562=
XR_930890.1:n.3252C>G
XR_930891.1:n.3252C>G
XR_930892.1:n.3152C>G
XR_930893.1:n.3149C>G
NM_001351295.1:c.3252C>G	NP_001338224.1:p.Val1084=
NM_001351296.1:c.3186C>G	NP_001338225.1:p.Val1062=
NM_001351297.1:c.3183C>G	NP_001338226.1:p.Val1061=
NR_147094.1:n.3335C>G
XM_017018197.2:c.3255C>G	XP_016873686.1:p.Val1085=
XM_017018199.1:c.3252C>G	XP_016873688.1:p.Val1084=
XM_017018201.2:c.3255C>G	XP_016873690.1:p.Val1085=
XM_017018202.1:c.1752C>G	XP_016873691.1:p.Val584=
XM_017018204.1:c.1143C>G	XP_016873693.1:p.Val381=
XM_024448668.1:c.1554C>G	XP_024304436.1:p.Val518=
XR_001747945.2:n.3327C>G
XR_001747946.2:n.3258C>G
XR_002957189.1:n.3407C>G
NM_000352.6:c.3186C>G MANE Select	NP_000343.2:p.Val1062=
NM_001287174.2:c.3189C>G	NP_001274103.1:p.Val1063=
NM_001351295.2:c.3252C>G	NP_001338224.1:p.Val1084=
NM_001351296.2:c.3186C>G	NP_001338225.1:p.Val1062=
NM_001351297.2:c.3183C>G	NP_001338226.1:p.Val1061=
NR_147094.2:n.3335C>G
NM_001287174.3:c.3189C>G	NP_001274103.1:p.Val1063=