Canonical Allele Identifier: CA379781488

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17414663T>G (hg19) ; chr11:g.17393116T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393116T>G , CM000673.2:g.17393116T>G	GRCh38
NC_000011.9:g.17414663T>G , CM000673.1:g.17414663T>G	GRCh37
NC_000011.8:g.17371239T>G	NCBI36
NG_008867.1:g.88787A>C
NG_012446.1:g.544A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4222A>C
ENST00000526037.6:n.556A>C
ENST00000528374.2:c.1212A>C
ENST00000529967.6:n.2960A>C
ENST00000532220.2:n.3854A>C
ENST00000642611.2:n.5954A>C
ENST00000644057.2:n.1197A>C
ENST00000645004.2:n.2120A>C
ENST00000682051.1:n.4783A>C
ENST00000682110.1:n.4836A>C
ENST00000682140.1:c.*407A>C	ENSP00000507829.1:n.*407A>C
ENST00000682185.1:n.5926A>C
ENST00000682204.1:c.*2759A>C	ENSP00000507094.1:n.*2759A>C
ENST00000682215.1:n.5203A>C
ENST00000682288.1:c.*3052A>C	ENSP00000507506.1:n.*3052A>C
ENST00000682442.1:n.5056A>C
ENST00000682528.1:n.4913A>C
ENST00000682673.1:n.4780A>C
ENST00000682805.1:n.5241A>C
ENST00000682965.1:c.*1043A>C	ENSP00000508229.1:n.*1043A>C
ENST00000683093.1:n.5816A>C
ENST00000683136.1:c.4504A>C	ENSP00000507768.1:p.Thr1502Pro
ENST00000683153.1:n.4878A>C
ENST00000683365.1:n.4938A>C
ENST00000683377.1:n.4732A>C
ENST00000683456.1:c.*1758A>C	ENSP00000508318.1:n.*1758A>C
ENST00000683522.1:n.4918A>C
ENST00000683562.1:c.*2686A>C	ENSP00000508265.1:n.*2686A>C
ENST00000683693.1:n.6297A>C
ENST00000683725.1:c.*86A>C	ENSP00000507496.1:n.*86A>C
ENST00000684010.1:n.4831A>C
ENST00000684014.1:n.808A>C
ENST00000684157.1:n.5821A>C
ENST00000684253.1:n.4739A>C
ENST00000684288.1:c.*2793A>C	ENSP00000507143.1:n.*2793A>C
ENST00000684313.1:n.4268A>C
ENST00000684332.1:n.4909A>C
ENST00000684371.1:n.4942A>C
ENST00000684404.1:n.5864A>C
ENST00000684442.1:n.5060A>C
ENST00000684555.1:c.*2833A>C	ENSP00000507705.1:n.*2833A>C
ENST00000684571.1:c.4462A>C	ENSP00000506935.1:p.Thr1488Pro
ENST00000684593.1:c.*4326A>C	ENSP00000507005.1:n.*4326A>C
ENST00000684711.1:c.*3017A>C	ENSP00000506841.1:n.*3017A>C
ENST00000302539.9:c.4624A>C	ENSP00000303960.4:p.Thr1542Pro
ENST00000389817.8:c.4621A>C MANE Select	ENSP00000374467.4:p.Thr1541Pro
ENST00000642271.1:c.4618A>C	ENSP00000493749.1:p.Thr1540Pro
ENST00000642579.1:c.2675A>C
ENST00000642611.1:n.5839A>C
ENST00000642902.1:c.4403A>C
ENST00000643260.1:c.4621A>C	ENSP00000494450.1:p.Thr1541Pro
ENST00000643562.1:c.*2743A>C	ENSP00000496124.1:n.*2743A>C
ENST00000643925.1:c.3198A>C
ENST00000644057.1:n.780A>C
ENST00000644484.1:c.*4007A>C	ENSP00000493558.1:n.*4007A>C
ENST00000644675.1:c.*2793A>C	ENSP00000494567.1:n.*2793A>C
ENST00000644757.1:c.*3203-136A>C	ENSP00000495085.1:n.*3203-136A>C
ENST00000644772.1:c.4687A>C	ENSP00000494321.1:p.Thr1563Pro
ENST00000645004.1:n.2314A>C
ENST00000645076.1:c.3716A>C
ENST00000645417.1:c.1809A>C
ENST00000645744.1:c.*4306A>C	ENSP00000494564.1:n.*4306A>C
ENST00000645760.1:c.5042A>C
ENST00000645884.1:c.*1904A>C	ENSP00000495516.1:n.*1904A>C
ENST00000646003.1:c.*2643A>C	ENSP00000495259.1:n.*2643A>C
ENST00000646207.1:c.*3458A>C	ENSP00000495025.1:n.*3458A>C
ENST00000646276.1:c.*4025A>C	ENSP00000496070.1:n.*4025A>C
ENST00000646592.1:c.3927A>C
ENST00000646902.1:c.4588A>C	ENSP00000494101.1:p.Thr1530Pro
ENST00000646993.1:c.*3059A>C	ENSP00000493720.1:n.*3059A>C
ENST00000647015.1:c.4372A>C	ENSP00000495389.1:p.Thr1458Pro
ENST00000647086.1:c.*4207A>C	ENSP00000493677.1:n.*4207A>C
ENST00000647158.1:c.*2908A>C	ENSP00000495744.1:n.*2908A>C
ENST00000302539.8:c.4624A>C	ENSP00000303960.4:p.Thr1542Pro
ENST00000389817.7:c.4621A>C	ENSP00000374467.3:p.Thr1541Pro
ENST00000525022.1:n.600A>C
ENST00000526037.5:n.381A>C
ENST00000526168.5:c.409A>C
ENST00000531642.5:c.652A>C
NM_000352.4:c.4621A>C	NP_000343.2:p.Thr1541Pro
NM_001287174.1:c.4624A>C	NP_001274103.1:p.Thr1542Pro
XM_011520331.1:c.4621A>C	XP_011518633.1:p.Thr1541Pro
XM_011520333.1:c.3121A>C	XP_011518635.1:p.Thr1041Pro
XR_930890.1:n.4583A>C
NM_001351295.1:c.4687A>C	NP_001338224.1:p.Thr1563Pro
NM_001351296.1:c.4621A>C	NP_001338225.1:p.Thr1541Pro
NM_001351297.1:c.4618A>C	NP_001338226.1:p.Thr1540Pro
NR_147094.1:n.4916A>C
XM_017018197.2:c.4690A>C	XP_016873686.1:p.Thr1564Pro
XM_017018199.1:c.4687A>C	XP_016873688.1:p.Thr1563Pro
XM_017018202.1:c.3187A>C	XP_016873691.1:p.Thr1063Pro
XM_017018204.1:c.2578A>C	XP_016873693.1:p.Thr860Pro
XM_024448668.1:c.2989A>C	XP_024304436.1:p.Thr997Pro
XR_001747945.2:n.4658A>C
XR_001747946.2:n.4589A>C
XR_002957189.1:n.6372A>C
NM_000352.6:c.4621A>C MANE Select	NP_000343.2:p.Thr1541Pro
NM_001287174.2:c.4624A>C	NP_001274103.1:p.Thr1542Pro
NM_001351295.2:c.4687A>C	NP_001338224.1:p.Thr1563Pro
NM_001351296.2:c.4621A>C	NP_001338225.1:p.Thr1541Pro
NM_001351297.2:c.4618A>C	NP_001338226.1:p.Thr1540Pro
NR_147094.2:n.4916A>C
NM_001287174.3:c.4624A>C	NP_001274103.1:p.Thr1542Pro