Canonical Allele Identifier: CA379786692

Gene: ABCC8

Linked Data

• dbSNP Id: rs1953881353
• gnomAD v4: 11-17395662-A-G
• MyVariant Identifiers: chr11:g.17417209A>G (hg19) ; chr11:g.17395662A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395662A>G , CM000673.2:g.17395662A>G	GRCh38
NC_000011.9:g.17417209A>G , CM000673.1:g.17417209A>G	GRCh37
NC_000011.8:g.17373785A>G	NCBI36
NG_008867.1:g.86241T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3856T>C
ENST00000528374.2:c.846T>C
ENST00000529967.6:n.2594T>C
ENST00000532220.2:n.3488T>C
ENST00000642611.2:n.5588T>C
ENST00000644057.2:n.831T>C
ENST00000645004.2:n.1754T>C
ENST00000682051.1:n.4417T>C
ENST00000682110.1:n.4470T>C
ENST00000682140.1:c.*41T>C	ENSP00000507829.1:n.*41T>C
ENST00000682185.1:n.5560T>C
ENST00000682204.1:c.*2393T>C	ENSP00000507094.1:n.*2393T>C
ENST00000682215.1:n.4837T>C
ENST00000682288.1:c.*2686T>C	ENSP00000507506.1:n.*2686T>C
ENST00000682442.1:n.4690T>C
ENST00000682528.1:n.4547T>C
ENST00000682673.1:n.4414T>C
ENST00000682805.1:n.4875T>C
ENST00000682965.1:c.*677T>C	ENSP00000508229.1:n.*677T>C
ENST00000683093.1:n.5554T>C
ENST00000683136.1:c.4138T>C	ENSP00000507768.1:p.Ser1380Pro
ENST00000683153.1:n.4512T>C
ENST00000683365.1:n.4572T>C
ENST00000683377.1:n.4470T>C
ENST00000683456.1:c.*1392T>C	ENSP00000508318.1:n.*1392T>C
ENST00000683522.1:n.4470T>C
ENST00000683562.1:c.*2424T>C	ENSP00000508265.1:n.*2424T>C
ENST00000683693.1:n.6035T>C
ENST00000683725.1:c.4255T>C	ENSP00000507496.1:p.Ser1419Pro
ENST00000684010.1:n.4465T>C
ENST00000684157.1:n.5455T>C
ENST00000684253.1:n.4373T>C
ENST00000684288.1:c.*2427T>C	ENSP00000507143.1:n.*2427T>C
ENST00000684313.1:n.3902T>C
ENST00000684332.1:n.4543T>C
ENST00000684371.1:n.4576T>C
ENST00000684404.1:n.5498T>C
ENST00000684442.1:n.4694T>C
ENST00000684555.1:c.*2467T>C	ENSP00000507705.1:n.*2467T>C
ENST00000684571.1:c.4096T>C	ENSP00000506935.1:p.Ser1366Pro
ENST00000684593.1:c.*3960T>C	ENSP00000507005.1:n.*3960T>C
ENST00000684711.1:c.*2651T>C	ENSP00000506841.1:n.*2651T>C
ENST00000302539.9:c.4258T>C	ENSP00000303960.4:p.Ser1420Pro
ENST00000389817.8:c.4255T>C MANE Select	ENSP00000374467.4:p.Ser1419Pro
ENST00000642271.1:c.4252T>C	ENSP00000493749.1:p.Ser1418Pro
ENST00000642579.1:c.2309T>C
ENST00000642611.1:n.5473T>C
ENST00000642902.1:c.4037T>C
ENST00000643260.1:c.4255T>C	ENSP00000494450.1:p.Ser1419Pro
ENST00000643562.1:c.*2377T>C	ENSP00000496124.1:n.*2377T>C
ENST00000643925.1:c.2895T>C
ENST00000644057.1:n.332T>C
ENST00000644484.1:c.*3641T>C	ENSP00000493558.1:n.*3641T>C
ENST00000644675.1:c.*2427T>C	ENSP00000494567.1:n.*2427T>C
ENST00000644757.1:c.*3202+602T>C	ENSP00000495085.1:n.*3202+602T>C
ENST00000644772.1:c.4321T>C	ENSP00000494321.1:p.Ser1441Pro
ENST00000645004.1:n.1948T>C
ENST00000645076.1:c.3454T>C
ENST00000645417.1:c.1443T>C
ENST00000645744.1:c.*3964-24T>C	ENSP00000494564.1:n.*3964-24T>C
ENST00000645760.1:c.4676T>C
ENST00000645884.1:c.*1538T>C	ENSP00000495516.1:n.*1538T>C
ENST00000646003.1:c.*2301-24T>C	ENSP00000495259.1:n.*2301-24T>C
ENST00000646207.1:c.*3092T>C	ENSP00000495025.1:n.*3092T>C
ENST00000646276.1:c.*3659T>C	ENSP00000496070.1:n.*3659T>C
ENST00000646592.1:c.3561T>C
ENST00000646902.1:c.4222T>C	ENSP00000494101.1:p.Ser1408Pro
ENST00000646993.1:c.*2797T>C	ENSP00000493720.1:n.*2797T>C
ENST00000647013.1:c.4261T>C	ENSP00000496741.1:n.4261T>C
ENST00000647015.1:c.4006T>C	ENSP00000495389.1:p.Ser1336Pro
ENST00000647086.1:c.*3841T>C	ENSP00000493677.1:n.*3841T>C
ENST00000647158.1:c.*2542T>C	ENSP00000495744.1:n.*2542T>C
ENST00000302539.8:c.4258T>C	ENSP00000303960.4:p.Ser1420Pro
ENST00000389817.7:c.4255T>C	ENSP00000374467.3:p.Ser1419Pro
ENST00000525022.1:n.254T>C
ENST00000526037.5:n.119T>C
ENST00000526168.5:c.67-24T>C
ENST00000531642.5:c.91T>C
NM_000352.4:c.4255T>C	NP_000343.2:p.Ser1419Pro
NM_001287174.1:c.4258T>C	NP_001274103.1:p.Ser1420Pro
XM_011520331.1:c.4255T>C	XP_011518633.1:p.Ser1419Pro
XM_011520332.1:c.4258T>C	XP_011518634.1:p.Ser1420Pro
XM_011520333.1:c.2755T>C	XP_011518635.1:p.Ser919Pro
XR_930890.1:n.4321T>C
NM_001351295.1:c.4321T>C	NP_001338224.1:p.Ser1441Pro
NM_001351296.1:c.4255T>C	NP_001338225.1:p.Ser1419Pro
NM_001351297.1:c.4252T>C	NP_001338226.1:p.Ser1418Pro
NR_147094.1:n.4550T>C
XM_017018197.2:c.4324T>C	XP_016873686.1:p.Ser1442Pro
XM_017018199.1:c.4321T>C	XP_016873688.1:p.Ser1441Pro
XM_017018201.2:c.4324T>C	XP_016873690.1:p.Ser1442Pro
XM_017018202.1:c.2821T>C	XP_016873691.1:p.Ser941Pro
XM_017018204.1:c.2212T>C	XP_016873693.1:p.Ser738Pro
XM_024448668.1:c.2623T>C	XP_024304436.1:p.Ser875Pro
XR_001747945.2:n.4396T>C
XR_001747946.2:n.4327T>C
XR_002957189.1:n.6110T>C
NM_000352.6:c.4255T>C MANE Select	NP_000343.2:p.Ser1419Pro
NM_001287174.2:c.4258T>C	NP_001274103.1:p.Ser1420Pro
NM_001351295.2:c.4321T>C	NP_001338224.1:p.Ser1441Pro
NM_001351296.2:c.4255T>C	NP_001338225.1:p.Ser1419Pro
NM_001351297.2:c.4252T>C	NP_001338226.1:p.Ser1418Pro
NR_147094.2:n.4550T>C
NM_001287174.3:c.4258T>C	NP_001274103.1:p.Ser1420Pro