Canonical Allele Identifier: CA379788080

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395887-G-T
• MyVariant Identifiers: chr11:g.17417434G>T (hg19) ; chr11:g.17395887G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395887G>T , CM000673.2:g.17395887G>T	GRCh38
NC_000011.9:g.17417434G>T , CM000673.1:g.17417434G>T	GRCh37
NC_000011.8:g.17374010G>T	NCBI36
NG_008867.1:g.86016C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3764C>A
ENST00000528374.2:c.754C>A
ENST00000529967.6:n.2502C>A
ENST00000532220.2:n.3396C>A
ENST00000642611.2:n.5363C>A
ENST00000644057.2:n.606C>A
ENST00000645004.2:n.1662C>A
ENST00000682051.1:n.4325C>A
ENST00000682110.1:n.4378C>A
ENST00000682140.1:c.4029C>A	ENSP00000507829.1:p.Leu1343=
ENST00000682185.1:n.5468C>A
ENST00000682204.1:c.*2301C>A	ENSP00000507094.1:n.*2301C>A
ENST00000682215.1:n.4745C>A
ENST00000682288.1:c.*2594C>A	ENSP00000507506.1:n.*2594C>A
ENST00000682442.1:n.4598C>A
ENST00000682528.1:n.4455C>A
ENST00000682673.1:n.4322C>A
ENST00000682805.1:n.4783C>A
ENST00000682965.1:c.*585C>A	ENSP00000508229.1:n.*585C>A
ENST00000683093.1:n.5462C>A
ENST00000683136.1:c.4046C>A	ENSP00000507768.1:p.Ser1349Tyr
ENST00000683153.1:n.4420C>A
ENST00000683365.1:n.4480C>A
ENST00000683377.1:n.4378C>A
ENST00000683456.1:c.*1300C>A	ENSP00000508318.1:n.*1300C>A
ENST00000683522.1:n.4378C>A
ENST00000683562.1:c.*2332C>A	ENSP00000508265.1:n.*2332C>A
ENST00000683693.1:n.5810C>A
ENST00000683725.1:c.4163C>A	ENSP00000507496.1:p.Ser1388Tyr
ENST00000684010.1:n.4373C>A
ENST00000684157.1:n.5363C>A
ENST00000684253.1:n.4281C>A
ENST00000684288.1:c.*2335C>A	ENSP00000507143.1:n.*2335C>A
ENST00000684313.1:n.3810C>A
ENST00000684332.1:n.4451C>A
ENST00000684371.1:n.4484C>A
ENST00000684404.1:n.5406C>A
ENST00000684442.1:n.4602C>A
ENST00000684555.1:c.*2375C>A	ENSP00000507705.1:n.*2375C>A
ENST00000684571.1:c.4004C>A	ENSP00000506935.1:p.Ser1335Tyr
ENST00000684593.1:c.*3868C>A	ENSP00000507005.1:n.*3868C>A
ENST00000684711.1:c.*2559C>A	ENSP00000506841.1:n.*2559C>A
ENST00000302539.9:c.4166C>A	ENSP00000303960.4:p.Ser1389Tyr
ENST00000389817.8:c.4163C>A MANE Select	ENSP00000374467.4:p.Ser1388Tyr
ENST00000642271.1:c.4160C>A	ENSP00000493749.1:p.Ser1387Tyr
ENST00000642579.1:c.2217C>A
ENST00000642611.1:n.5248C>A
ENST00000642902.1:c.3945C>A
ENST00000643260.1:c.4163C>A	ENSP00000494450.1:p.Ser1388Tyr
ENST00000643562.1:c.*2285C>A	ENSP00000496124.1:n.*2285C>A
ENST00000643925.1:c.2803C>A
ENST00000644057.1:n.240C>A
ENST00000644484.1:c.*3549C>A	ENSP00000493558.1:n.*3549C>A
ENST00000644675.1:c.*2335C>A	ENSP00000494567.1:n.*2335C>A
ENST00000644757.1:c.*3202+377C>A	ENSP00000495085.1:n.*3202+377C>A
ENST00000644772.1:c.4229C>A	ENSP00000494321.1:p.Ser1410Tyr
ENST00000645004.1:n.1856C>A
ENST00000645076.1:c.3362C>A
ENST00000645417.1:c.1351C>A
ENST00000645744.1:c.*3928C>A	ENSP00000494564.1:n.*3928C>A
ENST00000645760.1:c.4584C>A
ENST00000645884.1:c.*1446C>A	ENSP00000495516.1:n.*1446C>A
ENST00000646003.1:c.*2265C>A	ENSP00000495259.1:n.*2265C>A
ENST00000646207.1:c.*3000C>A	ENSP00000495025.1:n.*3000C>A
ENST00000646276.1:c.*3567C>A	ENSP00000496070.1:n.*3567C>A
ENST00000646592.1:c.3469C>A
ENST00000646902.1:c.4130C>A	ENSP00000494101.1:p.Ser1377Tyr
ENST00000646993.1:c.*2705C>A	ENSP00000493720.1:n.*2705C>A
ENST00000647013.1:c.4169C>A	ENSP00000496741.1:n.4169C>A
ENST00000647015.1:c.3914C>A	ENSP00000495389.1:p.Ser1305Tyr
ENST00000647086.1:c.*3749C>A	ENSP00000493677.1:n.*3749C>A
ENST00000647158.1:c.*2450C>A	ENSP00000495744.1:n.*2450C>A
ENST00000302539.8:c.4166C>A	ENSP00000303960.4:p.Ser1389Tyr
ENST00000389817.7:c.4163C>A	ENSP00000374467.3:p.Ser1388Tyr
ENST00000525022.1:n.29C>A
ENST00000526168.5:c.31C>A
NM_000352.4:c.4163C>A	NP_000343.2:p.Ser1388Tyr
NM_001287174.1:c.4166C>A	NP_001274103.1:p.Ser1389Tyr
XM_011520331.1:c.4163C>A	XP_011518633.1:p.Ser1388Tyr
XM_011520332.1:c.4166C>A	XP_011518634.1:p.Ser1389Tyr
XM_011520333.1:c.2663C>A	XP_011518635.1:p.Ser888Tyr
XR_930890.1:n.4229C>A
NM_001351295.1:c.4229C>A	NP_001338224.1:p.Ser1410Tyr
NM_001351296.1:c.4163C>A	NP_001338225.1:p.Ser1388Tyr
NM_001351297.1:c.4160C>A	NP_001338226.1:p.Ser1387Tyr
NR_147094.1:n.4458C>A
XM_017018197.2:c.4232C>A	XP_016873686.1:p.Ser1411Tyr
XM_017018199.1:c.4229C>A	XP_016873688.1:p.Ser1410Tyr
XM_017018201.2:c.4232C>A	XP_016873690.1:p.Ser1411Tyr
XM_017018202.1:c.2729C>A	XP_016873691.1:p.Ser910Tyr
XM_017018204.1:c.2120C>A	XP_016873693.1:p.Ser707Tyr
XM_024448668.1:c.2531C>A	XP_024304436.1:p.Ser844Tyr
XR_001747945.2:n.4304C>A
XR_001747946.2:n.4235C>A
XR_002957189.1:n.5885C>A
NM_000352.6:c.4163C>A MANE Select	NP_000343.2:p.Ser1388Tyr
NM_001287174.2:c.4166C>A	NP_001274103.1:p.Ser1389Tyr
NM_001351295.2:c.4229C>A	NP_001338224.1:p.Ser1410Tyr
NM_001351296.2:c.4163C>A	NP_001338225.1:p.Ser1388Tyr
NM_001351297.2:c.4160C>A	NP_001338226.1:p.Ser1387Tyr
NR_147094.2:n.4458C>A
NM_001287174.3:c.4166C>A	NP_001274103.1:p.Ser1389Tyr