Canonical Allele Identifier: CA379786990

Gene: ABCC8

Linked Data

• dbSNP Id: rs1163768796
• gnomAD v4: 11-17395688-G-A
• MyVariant Identifiers: chr11:g.17417235G>A (hg19) ; chr11:g.17395688G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395688G>A , CM000673.2:g.17395688G>A	GRCh38
NC_000011.9:g.17417235G>A , CM000673.1:g.17417235G>A	GRCh37
NC_000011.8:g.17373811G>A	NCBI36
NG_008867.1:g.86215C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3830C>T
ENST00000528374.2:c.820C>T
ENST00000529967.6:n.2568C>T
ENST00000532220.2:n.3462C>T
ENST00000642611.2:n.5562C>T
ENST00000644057.2:n.805C>T
ENST00000645004.2:n.1728C>T
ENST00000682051.1:n.4391C>T
ENST00000682110.1:n.4444C>T
ENST00000682140.1:c.*15C>T	ENSP00000507829.1:n.*15C>T
ENST00000682185.1:n.5534C>T
ENST00000682204.1:c.*2367C>T	ENSP00000507094.1:n.*2367C>T
ENST00000682215.1:n.4811C>T
ENST00000682288.1:c.*2660C>T	ENSP00000507506.1:n.*2660C>T
ENST00000682442.1:n.4664C>T
ENST00000682528.1:n.4521C>T
ENST00000682673.1:n.4388C>T
ENST00000682805.1:n.4849C>T
ENST00000682965.1:c.*651C>T	ENSP00000508229.1:n.*651C>T
ENST00000683093.1:n.5528C>T
ENST00000683136.1:c.4112C>T	ENSP00000507768.1:p.Ala1371Val
ENST00000683153.1:n.4486C>T
ENST00000683365.1:n.4546C>T
ENST00000683377.1:n.4444C>T
ENST00000683456.1:c.*1366C>T	ENSP00000508318.1:n.*1366C>T
ENST00000683522.1:n.4444C>T
ENST00000683562.1:c.*2398C>T	ENSP00000508265.1:n.*2398C>T
ENST00000683693.1:n.6009C>T
ENST00000683725.1:c.4229C>T	ENSP00000507496.1:p.Ala1410Val
ENST00000684010.1:n.4439C>T
ENST00000684157.1:n.5429C>T
ENST00000684253.1:n.4347C>T
ENST00000684288.1:c.*2401C>T	ENSP00000507143.1:n.*2401C>T
ENST00000684313.1:n.3876C>T
ENST00000684332.1:n.4517C>T
ENST00000684371.1:n.4550C>T
ENST00000684404.1:n.5472C>T
ENST00000684442.1:n.4668C>T
ENST00000684555.1:c.*2441C>T	ENSP00000507705.1:n.*2441C>T
ENST00000684571.1:c.4070C>T	ENSP00000506935.1:p.Ala1357Val
ENST00000684593.1:c.*3934C>T	ENSP00000507005.1:n.*3934C>T
ENST00000684711.1:c.*2625C>T	ENSP00000506841.1:n.*2625C>T
ENST00000302539.9:c.4232C>T	ENSP00000303960.4:p.Ala1411Val
ENST00000389817.8:c.4229C>T MANE Select	ENSP00000374467.4:p.Ala1410Val
ENST00000642271.1:c.4226C>T	ENSP00000493749.1:p.Ala1409Val
ENST00000642579.1:c.2283C>T
ENST00000642611.1:n.5447C>T
ENST00000642902.1:c.4011C>T
ENST00000643260.1:c.4229C>T	ENSP00000494450.1:p.Ala1410Val
ENST00000643562.1:c.*2351C>T	ENSP00000496124.1:n.*2351C>T
ENST00000643925.1:c.2869C>T
ENST00000644057.1:n.306C>T
ENST00000644484.1:c.*3615C>T	ENSP00000493558.1:n.*3615C>T
ENST00000644675.1:c.*2401C>T	ENSP00000494567.1:n.*2401C>T
ENST00000644757.1:c.*3202+576C>T	ENSP00000495085.1:n.*3202+576C>T
ENST00000644772.1:c.4295C>T	ENSP00000494321.1:p.Ala1432Val
ENST00000645004.1:n.1922C>T
ENST00000645076.1:c.3428C>T
ENST00000645417.1:c.1417C>T
ENST00000645744.1:c.*3964-50C>T	ENSP00000494564.1:n.*3964-50C>T
ENST00000645760.1:c.4650C>T
ENST00000645884.1:c.*1512C>T	ENSP00000495516.1:n.*1512C>T
ENST00000646003.1:c.*2301-50C>T	ENSP00000495259.1:n.*2301-50C>T
ENST00000646207.1:c.*3066C>T	ENSP00000495025.1:n.*3066C>T
ENST00000646276.1:c.*3633C>T	ENSP00000496070.1:n.*3633C>T
ENST00000646592.1:c.3535C>T
ENST00000646902.1:c.4196C>T	ENSP00000494101.1:p.Ala1399Val
ENST00000646993.1:c.*2771C>T	ENSP00000493720.1:n.*2771C>T
ENST00000647013.1:c.4235C>T	ENSP00000496741.1:n.4235C>T
ENST00000647015.1:c.3980C>T	ENSP00000495389.1:p.Ala1327Val
ENST00000647086.1:c.*3815C>T	ENSP00000493677.1:n.*3815C>T
ENST00000647158.1:c.*2516C>T	ENSP00000495744.1:n.*2516C>T
ENST00000302539.8:c.4232C>T	ENSP00000303960.4:p.Ala1411Val
ENST00000389817.7:c.4229C>T	ENSP00000374467.3:p.Ala1410Val
ENST00000525022.1:n.228C>T
ENST00000526037.5:n.93C>T
ENST00000526168.5:c.67-50C>T
ENST00000531642.5:c.65C>T
NM_000352.4:c.4229C>T	NP_000343.2:p.Ala1410Val
NM_001287174.1:c.4232C>T	NP_001274103.1:p.Ala1411Val
XM_011520331.1:c.4229C>T	XP_011518633.1:p.Ala1410Val
XM_011520332.1:c.4232C>T	XP_011518634.1:p.Ala1411Val
XM_011520333.1:c.2729C>T	XP_011518635.1:p.Ala910Val
XR_930890.1:n.4295C>T
NM_001351295.1:c.4295C>T	NP_001338224.1:p.Ala1432Val
NM_001351296.1:c.4229C>T	NP_001338225.1:p.Ala1410Val
NM_001351297.1:c.4226C>T	NP_001338226.1:p.Ala1409Val
NR_147094.1:n.4524C>T
XM_017018197.2:c.4298C>T	XP_016873686.1:p.Ala1433Val
XM_017018199.1:c.4295C>T	XP_016873688.1:p.Ala1432Val
XM_017018201.2:c.4298C>T	XP_016873690.1:p.Ala1433Val
XM_017018202.1:c.2795C>T	XP_016873691.1:p.Ala932Val
XM_017018204.1:c.2186C>T	XP_016873693.1:p.Ala729Val
XM_024448668.1:c.2597C>T	XP_024304436.1:p.Ala866Val
XR_001747945.2:n.4370C>T
XR_001747946.2:n.4301C>T
XR_002957189.1:n.6084C>T
NM_000352.6:c.4229C>T MANE Select	NP_000343.2:p.Ala1410Val
NM_001287174.2:c.4232C>T	NP_001274103.1:p.Ala1411Val
NM_001351295.2:c.4295C>T	NP_001338224.1:p.Ala1432Val
NM_001351296.2:c.4229C>T	NP_001338225.1:p.Ala1410Val
NM_001351297.2:c.4226C>T	NP_001338226.1:p.Ala1409Val
NR_147094.2:n.4524C>T
NM_001287174.3:c.4232C>T	NP_001274103.1:p.Ala1411Val