Canonical Allele Identifier: CA8808436

Gene: CANT1

Linked Data

• ClinVar Variation Id: 325681
• ClinVar RCV Id: RCV000263191
• dbSNP Id: rs11891
• ExAC: 17:76988785 G / A
• gnomAD v2: 17-76988785-G-A
• gnomAD v3: 17-78992703-G-A
• gnomAD v4: 17-78992703-G-A
• MyVariant Identifiers: chr17:g.76988785G>A (hg19) ; chr17:g.76988785_76988786delinsAC (hg19) ; chr17:g.78992703G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78992703G>A , CM000679.2:g.78992703G>A	GRCh38
NC_000017.10:g.76988785G>A , CM000679.1:g.76988785G>A	GRCh37
NC_000017.9:g.74500380G>A	NCBI36
NG_016645.1:g.22115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392446.10:c.*847C>T MANE Select	ENSP00000376241.4:n.*847C>T
ENST00000302345.6:c.*847C>T	ENSP00000307674.2:n.*847C>T
ENST00000392446.9:c.*847C>T	ENSP00000376241.4:n.*847C>T
ENST00000592228.1:c.706C>T	ENSP00000466743.1:p.Arg236Cys
ENST00000620915.4:c.*847C>T	ENSP00000477798.1:n.*847C>T
NM_001159772.1:c.*847C>T	NP_001153244.1:n.*847C>T
NM_001159773.1:c.*847C>T	NP_001153245.1:n.*847C>T
NM_138793.3:c.*847C>T	NP_620148.1:n.*847C>T
XM_005257020.1:c.*847C>T	XP_005257077.1:n.*847C>T
XM_005257021.1:c.*847C>T	XP_005257078.1:n.*847C>T
XM_005257022.1:c.*847C>T	XP_005257079.1:n.*847C>T
XM_006721683.1:c.*847C>T	XP_006721746.1:n.*847C>T
XM_011524291.1:c.*847C>T	XP_011522593.1:n.*847C>T
XM_011524292.1:c.*847C>T	XP_011522594.1:n.*847C>T
XM_011524293.1:c.*847C>T	XP_011522595.1:n.*847C>T
XM_011524294.1:c.*847C>T	XP_011522596.1:n.*847C>T
XM_011524295.1:c.*847C>T	XP_011522597.1:n.*847C>T
XR_935009.1:n.2598G>A
XM_011524294.2:c.*847C>T	XP_011522596.1:n.*847C>T
XM_011524295.2:c.*847C>T	XP_011522597.1:n.*847C>T
XM_024450564.1:c.*847C>T	XP_024306332.1:n.*847C>T
XR_001752424.2:n.2497C>T
NM_001159773.2:c.*847C>T MANE Select	NP_001153245.1:n.*847C>T
NM_001159772.2:c.*847C>T	NP_001153244.1:n.*847C>T
NM_138793.4:c.*847C>T	NP_620148.1:n.*847C>T