Canonical Allele Identifier: CA379791067

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17397020-G-A
• MyVariant Identifiers: chr11:g.17418567G>A (hg19) ; chr11:g.17397020G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397020G>A , CM000673.2:g.17397020G>A	GRCh38
NC_000011.9:g.17418567G>A , CM000673.1:g.17418567G>A	GRCh37
NC_000011.8:g.17375143G>A	NCBI36
NG_008867.1:g.84883C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3616C>T
ENST00000528374.2:c.606C>T
ENST00000529967.6:n.2354C>T
ENST00000532220.2:n.2263C>T
ENST00000642611.2:n.4230C>T
ENST00000644057.2:n.458C>T
ENST00000645004.2:n.1514C>T
ENST00000682051.1:n.4177C>T
ENST00000682110.1:n.4230C>T
ENST00000682140.1:c.3985+173C>T	ENSP00000507829.1:n.3985+173C>T
ENST00000682185.1:n.5320C>T
ENST00000682204.1:c.*2153C>T	ENSP00000507094.1:n.*2153C>T
ENST00000682215.1:n.4597C>T
ENST00000682288.1:c.*2446C>T	ENSP00000507506.1:n.*2446C>T
ENST00000682442.1:n.4450C>T
ENST00000682528.1:n.4307C>T
ENST00000682673.1:n.4174C>T
ENST00000682805.1:n.4597C>T
ENST00000682965.1:c.*437C>T	ENSP00000508229.1:n.*437C>T
ENST00000683093.1:n.4329C>T
ENST00000683136.1:c.3898C>T	ENSP00000507768.1:p.Pro1300Ser
ENST00000683153.1:n.4272C>T
ENST00000683365.1:n.4332C>T
ENST00000683377.1:n.4230C>T
ENST00000683456.1:c.*1152C>T	ENSP00000508318.1:n.*1152C>T
ENST00000683522.1:n.4230C>T
ENST00000683562.1:c.*2184C>T	ENSP00000508265.1:n.*2184C>T
ENST00000683693.1:n.4677C>T
ENST00000683725.1:c.4015C>T	ENSP00000507496.1:p.Pro1339Ser
ENST00000684010.1:n.4225C>T
ENST00000684157.1:n.4230C>T
ENST00000684253.1:n.4133C>T
ENST00000684288.1:c.*2187C>T	ENSP00000507143.1:n.*2187C>T
ENST00000684313.1:n.3662C>T
ENST00000684332.1:n.4303C>T
ENST00000684371.1:n.4336C>T
ENST00000684404.1:n.4273C>T
ENST00000684442.1:n.4454C>T
ENST00000684555.1:c.*2227C>T	ENSP00000507705.1:n.*2227C>T
ENST00000684571.1:c.3856C>T	ENSP00000506935.1:p.Pro1286Ser
ENST00000684593.1:c.*3720C>T	ENSP00000507005.1:n.*3720C>T
ENST00000684711.1:c.*2411C>T	ENSP00000506841.1:n.*2411C>T
ENST00000302539.9:c.4018C>T	ENSP00000303960.4:p.Pro1340Ser
ENST00000389817.8:c.4015C>T MANE Select	ENSP00000374467.4:p.Pro1339Ser
ENST00000642271.1:c.4012C>T	ENSP00000493749.1:p.Pro1338Ser
ENST00000642579.1:c.2073-4C>T
ENST00000642611.1:n.4115C>T
ENST00000642902.1:c.3797C>T
ENST00000643260.1:c.4015C>T	ENSP00000494450.1:p.Pro1339Ser
ENST00000643562.1:c.*2137C>T	ENSP00000496124.1:n.*2137C>T
ENST00000643925.1:c.2655C>T
ENST00000644057.1:n.92C>T
ENST00000644484.1:c.*2416C>T	ENSP00000493558.1:n.*2416C>T
ENST00000644675.1:c.*2187C>T	ENSP00000494567.1:n.*2187C>T
ENST00000644757.1:c.*2446C>T	ENSP00000495085.1:n.*2446C>T
ENST00000644772.1:c.4081C>T	ENSP00000494321.1:p.Pro1361Ser
ENST00000645004.1:n.1670C>T
ENST00000645076.1:c.3214C>T
ENST00000645417.1:c.1203C>T
ENST00000645744.1:c.*2795C>T	ENSP00000494564.1:n.*2795C>T
ENST00000645760.1:c.4436C>T
ENST00000645884.1:c.*1298C>T	ENSP00000495516.1:n.*1298C>T
ENST00000646003.1:c.*2117C>T	ENSP00000495259.1:n.*2117C>T
ENST00000646207.1:c.*2852C>T	ENSP00000495025.1:n.*2852C>T
ENST00000646276.1:c.*2434C>T	ENSP00000496070.1:n.*2434C>T
ENST00000646592.1:c.3321C>T
ENST00000646902.1:c.3986-4C>T	ENSP00000494101.1:n.3986-4C>T
ENST00000646993.1:c.*2557C>T	ENSP00000493720.1:n.*2557C>T
ENST00000647013.1:c.4021C>T	ENSP00000496741.1:n.4021C>T
ENST00000647015.1:c.3766C>T	ENSP00000495389.1:p.Pro1256Ser
ENST00000647086.1:c.*3605-4C>T	ENSP00000493677.1:n.*3605-4C>T
ENST00000647158.1:c.*2302C>T	ENSP00000495744.1:n.*2302C>T
ENST00000302539.8:c.4018C>T	ENSP00000303960.4:p.Pro1340Ser
ENST00000389817.7:c.4015C>T	ENSP00000374467.3:p.Pro1339Ser
ENST00000527905.5:c.*1037C>T	ENSP00000431653.1:n.*1037C>T
ENST00000528374.1:c.497C>T
ENST00000531137.1:n.580C>T
ENST00000531891.1:c.357-4C>T
ENST00000532220.1:n.489C>T
NM_000352.4:c.4015C>T	NP_000343.2:p.Pro1339Ser
NM_001287174.1:c.4018C>T	NP_001274103.1:p.Pro1340Ser
XM_011520331.1:c.4015C>T	XP_011518633.1:p.Pro1339Ser
XM_011520332.1:c.4018C>T	XP_011518634.1:p.Pro1340Ser
XM_011520333.1:c.2515C>T	XP_011518635.1:p.Pro839Ser
XR_930890.1:n.4081C>T
NM_001351295.1:c.4081C>T	NP_001338224.1:p.Pro1361Ser
NM_001351296.1:c.4015C>T	NP_001338225.1:p.Pro1339Ser
NM_001351297.1:c.4012C>T	NP_001338226.1:p.Pro1338Ser
NR_147094.1:n.4310C>T
XM_017018197.2:c.4084C>T	XP_016873686.1:p.Pro1362Ser
XM_017018199.1:c.4081C>T	XP_016873688.1:p.Pro1361Ser
XM_017018201.2:c.4084C>T	XP_016873690.1:p.Pro1362Ser
XM_017018202.1:c.2581C>T	XP_016873691.1:p.Pro861Ser
XM_017018204.1:c.1972C>T	XP_016873693.1:p.Pro658Ser
XM_024448668.1:c.2383C>T	XP_024304436.1:p.Pro795Ser
XR_001747945.2:n.4156C>T
XR_001747946.2:n.4087C>T
XR_002957189.1:n.4752C>T
NM_000352.6:c.4015C>T MANE Select	NP_000343.2:p.Pro1339Ser
NM_001287174.2:c.4018C>T	NP_001274103.1:p.Pro1340Ser
NM_001351295.2:c.4081C>T	NP_001338224.1:p.Pro1361Ser
NM_001351296.2:c.4015C>T	NP_001338225.1:p.Pro1339Ser
NM_001351297.2:c.4012C>T	NP_001338226.1:p.Pro1338Ser
NR_147094.2:n.4310C>T
NM_001287174.3:c.4018C>T	NP_001274103.1:p.Pro1340Ser