Canonical Allele Identifier: CA379807698

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434281A>G (hg19) ; chr11:g.17412734A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412734A>G , CM000673.2:g.17412734A>G	GRCh38
NC_000011.9:g.17434281A>G , CM000673.1:g.17434281A>G	GRCh37
NC_000011.8:g.17390857A>G	NCBI36
NG_008867.1:g.69169T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2157T>C
ENST00000529967.6:n.747T>C
ENST00000642611.2:n.2557T>C
ENST00000682051.1:n.2504T>C
ENST00000682110.1:n.2557T>C
ENST00000682140.1:c.2485T>C	ENSP00000507829.1:p.Ser829Pro
ENST00000682185.1:n.3793T>C
ENST00000682204.1:c.*626T>C	ENSP00000507094.1:n.*626T>C
ENST00000682215.1:n.2554T>C
ENST00000682288.1:c.*919T>C	ENSP00000507506.1:n.*919T>C
ENST00000682442.1:n.2678T>C
ENST00000682528.1:n.2554T>C
ENST00000682673.1:n.2501T>C
ENST00000682805.1:n.2554T>C
ENST00000682965.1:c.2485T>C	ENSP00000508229.1:p.Ser829Pro
ENST00000683093.1:n.2656T>C
ENST00000683136.1:c.2485T>C	ENSP00000507768.1:p.Ser829Pro
ENST00000683153.1:n.2713T>C
ENST00000683365.1:n.2659T>C
ENST00000683377.1:n.2557T>C
ENST00000683456.1:c.2488T>C	ENSP00000508318.1:p.Ser830Pro
ENST00000683522.1:n.2557T>C
ENST00000683562.1:c.*657T>C	ENSP00000508265.1:n.*657T>C
ENST00000683693.1:n.2554T>C
ENST00000683725.1:c.2488T>C	ENSP00000507496.1:p.Ser830Pro
ENST00000684010.1:n.2472T>C
ENST00000684157.1:n.2557T>C
ENST00000684253.1:n.2460T>C
ENST00000684288.1:c.*660T>C	ENSP00000507143.1:n.*660T>C
ENST00000684313.1:n.1989T>C
ENST00000684332.1:n.2630T>C
ENST00000684371.1:n.2663T>C
ENST00000684404.1:n.2554T>C
ENST00000684442.1:n.2557T>C
ENST00000684555.1:c.*700T>C	ENSP00000507705.1:n.*700T>C
ENST00000684571.1:c.2329T>C	ENSP00000506935.1:p.Ser777Pro
ENST00000684593.1:c.*2193T>C	ENSP00000507005.1:n.*2193T>C
ENST00000684711.1:c.*884T>C	ENSP00000506841.1:n.*884T>C
ENST00000302539.9:c.2491T>C	ENSP00000303960.4:p.Ser831Pro
ENST00000389817.8:c.2488T>C MANE Select	ENSP00000374467.4:p.Ser830Pro
ENST00000642271.1:c.2485T>C	ENSP00000493749.1:p.Ser829Pro
ENST00000642579.1:c.572T>C
ENST00000642611.1:n.2442T>C
ENST00000642902.1:c.2323T>C
ENST00000643260.1:c.2488T>C	ENSP00000494450.1:p.Ser830Pro
ENST00000643562.1:c.*464T>C	ENSP00000496124.1:n.*464T>C
ENST00000643925.1:c.532T>C
ENST00000644447.1:c.844T>C	ENSP00000496282.1:p.Ser282Pro
ENST00000644472.1:c.*849T>C	ENSP00000495378.1:n.*849T>C
ENST00000644484.1:c.*697T>C	ENSP00000493558.1:n.*697T>C
ENST00000644542.1:c.*2193T>C	ENSP00000495532.1:n.*2193T>C
ENST00000644675.1:c.*660T>C	ENSP00000494567.1:n.*660T>C
ENST00000644757.1:c.*793T>C	ENSP00000495085.1:n.*793T>C
ENST00000644772.1:c.2554T>C	ENSP00000494321.1:p.Ser852Pro
ENST00000645076.1:c.1740T>C
ENST00000645744.1:c.*852T>C	ENSP00000494564.1:n.*852T>C
ENST00000645760.1:c.2763T>C
ENST00000645884.1:c.2488T>C	ENSP00000495516.1:p.Ser830Pro
ENST00000646003.1:c.*544T>C	ENSP00000495259.1:n.*544T>C
ENST00000646207.1:c.*852T>C	ENSP00000495025.1:n.*852T>C
ENST00000646276.1:c.*761T>C	ENSP00000496070.1:n.*761T>C
ENST00000646592.1:c.1714T>C
ENST00000646902.1:c.2485T>C	ENSP00000494101.1:p.Ser829Pro
ENST00000646993.1:c.*884T>C	ENSP00000493720.1:n.*884T>C
ENST00000647013.1:c.2494T>C	ENSP00000496741.1:n.2494T>C
ENST00000647015.1:c.2239T>C	ENSP00000495389.1:p.Ser747Pro
ENST00000647086.1:c.*2218T>C	ENSP00000493677.1:n.*2218T>C
ENST00000647158.1:c.*629T>C	ENSP00000495744.1:n.*629T>C
ENST00000302539.8:c.2491T>C	ENSP00000303960.4:p.Ser831Pro
ENST00000389817.7:c.2488T>C	ENSP00000374467.3:p.Ser830Pro
ENST00000526921.5:n.172T>C
ENST00000527905.5:c.2458T>C	ENSP00000431653.1:p.Ser820Pro
ENST00000529967.5:n.157T>C
ENST00000530147.5:n.71T>C
ENST00000531911.1:n.602T>C
NM_000352.4:c.2488T>C	NP_000343.2:p.Ser830Pro
NM_001287174.1:c.2491T>C	NP_001274103.1:p.Ser831Pro
XM_011520331.1:c.2488T>C	XP_011518633.1:p.Ser830Pro
XM_011520332.1:c.2491T>C	XP_011518634.1:p.Ser831Pro
XM_011520333.1:c.988T>C	XP_011518635.1:p.Ser330Pro
XM_011520334.1:c.2491T>C	XP_011518636.1:p.Ser831Pro
XR_930890.1:n.2554T>C
XR_930891.1:n.2554T>C
XR_930892.1:n.2554T>C
XR_930893.1:n.2551T>C
NM_001351295.1:c.2554T>C	NP_001338224.1:p.Ser852Pro
NM_001351296.1:c.2488T>C	NP_001338225.1:p.Ser830Pro
NM_001351297.1:c.2485T>C	NP_001338226.1:p.Ser829Pro
NR_147094.1:n.2557T>C
XM_017018197.2:c.2557T>C	XP_016873686.1:p.Ser853Pro
XM_017018199.1:c.2554T>C	XP_016873688.1:p.Ser852Pro
XM_017018201.2:c.2557T>C	XP_016873690.1:p.Ser853Pro
XM_017018202.1:c.1054T>C	XP_016873691.1:p.Ser352Pro
XM_017018204.1:c.445T>C	XP_016873693.1:p.Ser149Pro
XM_024448668.1:c.856T>C	XP_024304436.1:p.Ser286Pro
XR_001747945.2:n.2629T>C
XR_001747946.2:n.2560T>C
XR_002957189.1:n.2629T>C
NM_000352.6:c.2488T>C MANE Select	NP_000343.2:p.Ser830Pro
NM_001287174.2:c.2491T>C	NP_001274103.1:p.Ser831Pro
NM_001351295.2:c.2554T>C	NP_001338224.1:p.Ser852Pro
NM_001351296.2:c.2488T>C	NP_001338225.1:p.Ser830Pro
NM_001351297.2:c.2485T>C	NP_001338226.1:p.Ser829Pro
NR_147094.2:n.2557T>C
NM_001287174.3:c.2491T>C	NP_001274103.1:p.Ser831Pro