Canonical Allele Identifier: CA379801403

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428203T>G (hg19) ; chr11:g.17406656T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406656T>G , CM000673.2:g.17406656T>G	GRCh38
NC_000011.9:g.17428203T>G , CM000673.1:g.17428203T>G	GRCh37
NC_000011.8:g.17384779T>G	NCBI36
NG_008867.1:g.75247A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2864A>C
ENST00000529967.6:n.1634A>C
ENST00000532220.2:n.1027A>C
ENST00000642611.2:n.3364A>C
ENST00000645004.2:n.794A>C
ENST00000682051.1:n.3311A>C
ENST00000682110.1:n.3364A>C
ENST00000682140.1:c.3292A>C	ENSP00000507829.1:p.Ser1098Arg
ENST00000682185.1:n.4600A>C
ENST00000682204.1:c.*1433A>C	ENSP00000507094.1:n.*1433A>C
ENST00000682215.1:n.3361A>C
ENST00000682288.1:c.*1726A>C	ENSP00000507506.1:n.*1726A>C
ENST00000682442.1:n.3584A>C
ENST00000682528.1:n.3441A>C
ENST00000682673.1:n.3308A>C
ENST00000682805.1:n.3361A>C
ENST00000682965.1:c.3292A>C	ENSP00000508229.1:p.Ser1098Arg
ENST00000683093.1:n.3463A>C
ENST00000683136.1:c.3292A>C	ENSP00000507768.1:p.Ser1098Arg
ENST00000683153.1:n.3520A>C
ENST00000683365.1:n.3466A>C
ENST00000683377.1:n.3364A>C
ENST00000683456.1:c.*432A>C	ENSP00000508318.1:n.*432A>C
ENST00000683522.1:n.3364A>C
ENST00000683562.1:c.*1464A>C	ENSP00000508265.1:n.*1464A>C
ENST00000683693.1:n.3441A>C
ENST00000683725.1:c.3295A>C	ENSP00000507496.1:p.Ser1099Arg
ENST00000684010.1:n.3359A>C
ENST00000684157.1:n.3364A>C
ENST00000684253.1:n.3267A>C
ENST00000684288.1:c.*1467A>C	ENSP00000507143.1:n.*1467A>C
ENST00000684313.1:n.2796A>C
ENST00000684332.1:n.3437A>C
ENST00000684371.1:n.3470A>C
ENST00000684404.1:n.3407A>C
ENST00000684442.1:n.3364A>C
ENST00000684555.1:c.*1507A>C	ENSP00000507705.1:n.*1507A>C
ENST00000684571.1:c.3136A>C	ENSP00000506935.1:p.Ser1046Arg
ENST00000684593.1:c.*3000A>C	ENSP00000507005.1:n.*3000A>C
ENST00000684711.1:c.*1691A>C	ENSP00000506841.1:n.*1691A>C
ENST00000302539.9:c.3298A>C	ENSP00000303960.4:p.Ser1100Arg
ENST00000389817.8:c.3295A>C MANE Select	ENSP00000374467.4:p.Ser1099Arg
ENST00000642271.1:c.3292A>C	ENSP00000493749.1:p.Ser1098Arg
ENST00000642579.1:c.1379A>C
ENST00000642611.1:n.3249A>C
ENST00000642902.1:c.3077A>C
ENST00000643260.1:c.3295A>C	ENSP00000494450.1:p.Ser1099Arg
ENST00000643562.1:c.*1271A>C	ENSP00000496124.1:n.*1271A>C
ENST00000643925.1:c.1419A>C
ENST00000644447.1:c.1651A>C	ENSP00000496282.1:p.Ser551Arg
ENST00000644484.1:c.*1550A>C	ENSP00000493558.1:n.*1550A>C
ENST00000644542.1:c.*3099A>C	ENSP00000495532.1:n.*3099A>C
ENST00000644675.1:c.*1467A>C	ENSP00000494567.1:n.*1467A>C
ENST00000644757.1:c.*1580A>C	ENSP00000495085.1:n.*1580A>C
ENST00000644772.1:c.3361A>C	ENSP00000494321.1:p.Ser1121Arg
ENST00000645004.1:n.434A>C
ENST00000645076.1:c.2494A>C
ENST00000645417.1:c.461A>C
ENST00000645744.1:c.*1559A>C	ENSP00000494564.1:n.*1559A>C
ENST00000645760.1:c.3570A>C
ENST00000645884.1:c.*432A>C	ENSP00000495516.1:n.*432A>C
ENST00000646003.1:c.*1251A>C	ENSP00000495259.1:n.*1251A>C
ENST00000646207.1:c.*1762A>C	ENSP00000495025.1:n.*1762A>C
ENST00000646276.1:c.*1568A>C	ENSP00000496070.1:n.*1568A>C
ENST00000646592.1:c.2601A>C
ENST00000646902.1:c.3292A>C	ENSP00000494101.1:p.Ser1098Arg
ENST00000646993.1:c.*1691A>C	ENSP00000493720.1:n.*1691A>C
ENST00000647013.1:c.3301A>C	ENSP00000496741.1:n.3301A>C
ENST00000647015.1:c.3046A>C	ENSP00000495389.1:p.Ser1016Arg
ENST00000647086.1:c.*3025A>C	ENSP00000493677.1:n.*3025A>C
ENST00000647158.1:c.*1436A>C	ENSP00000495744.1:n.*1436A>C
ENST00000302539.8:c.3298A>C	ENSP00000303960.4:p.Ser1100Arg
ENST00000389817.7:c.3295A>C	ENSP00000374467.3:p.Ser1099Arg
ENST00000524561.1:n.427A>C
ENST00000527905.5:c.*171A>C	ENSP00000431653.1:n.*171A>C
NM_000352.4:c.3295A>C	NP_000343.2:p.Ser1099Arg
NM_001287174.1:c.3298A>C	NP_001274103.1:p.Ser1100Arg
XM_011520331.1:c.3295A>C	XP_011518633.1:p.Ser1099Arg
XM_011520332.1:c.3298A>C	XP_011518634.1:p.Ser1100Arg
XM_011520333.1:c.1795A>C	XP_011518635.1:p.Ser599Arg
XR_930890.1:n.3361A>C
XR_930891.1:n.3361A>C
XR_930892.1:n.3261A>C
XR_930893.1:n.3258A>C
NM_001351295.1:c.3361A>C	NP_001338224.1:p.Ser1121Arg
NM_001351296.1:c.3295A>C	NP_001338225.1:p.Ser1099Arg
NM_001351297.1:c.3292A>C	NP_001338226.1:p.Ser1098Arg
NR_147094.1:n.3444A>C
XM_017018197.2:c.3364A>C	XP_016873686.1:p.Ser1122Arg
XM_017018199.1:c.3361A>C	XP_016873688.1:p.Ser1121Arg
XM_017018201.2:c.3364A>C	XP_016873690.1:p.Ser1122Arg
XM_017018202.1:c.1861A>C	XP_016873691.1:p.Ser621Arg
XM_017018204.1:c.1252A>C	XP_016873693.1:p.Ser418Arg
XM_024448668.1:c.1663A>C	XP_024304436.1:p.Ser555Arg
XR_001747945.2:n.3436A>C
XR_001747946.2:n.3367A>C
XR_002957189.1:n.3516A>C
NM_000352.6:c.3295A>C MANE Select	NP_000343.2:p.Ser1099Arg
NM_001287174.2:c.3298A>C	NP_001274103.1:p.Ser1100Arg
NM_001351295.2:c.3361A>C	NP_001338224.1:p.Ser1121Arg
NM_001351296.2:c.3295A>C	NP_001338225.1:p.Ser1099Arg
NM_001351297.2:c.3292A>C	NP_001338226.1:p.Ser1098Arg
NR_147094.2:n.3444A>C
NM_001287174.3:c.3298A>C	NP_001274103.1:p.Ser1100Arg