Canonical Allele Identifier: CA129624

Gene: CANT1

Linked Data

• ClinVar Variation Id: 31018
• ClinVar RCV Id: RCV000024010 ; RCV000509573
• dbSNP Id: rs377546036
• ExAC: 17:76991259 C / T
• gnomAD v2: 17-76991259-C-T
• gnomAD v3: 17-78995177-C-T
• gnomAD v4: 17-78995177-C-T
• MyVariant Identifiers: chr17:g.76991259C>T (hg19) ; chr17:g.78995177C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78995177C>T , CM000679.2:g.78995177C>T	GRCh38
NC_000017.10:g.76991259C>T , CM000679.1:g.76991259C>T	GRCh37
NC_000017.9:g.74502854C>T	NCBI36
NG_016645.1:g.19641G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000392446.10:c.676G>A MANE Select	ENSP00000376241.4:p.Val226Met
ENST00000302345.6:c.676G>A	ENSP00000307674.2:p.Val226Met
ENST00000392446.9:c.676G>A	ENSP00000376241.4:p.Val226Met
ENST00000588096.1:n.73G>A
ENST00000591773.5:c.676G>A	ENSP00000467437.1:p.Val226Met
ENST00000592228.1:c.647+1799G>A	ENSP00000466743.1:n.647+1799G>A
ENST00000620915.4:c.676G>A	ENSP00000477798.1:p.Val226Met
NM_001159772.1:c.676G>A	NP_001153244.1:p.Val226Met
NM_001159773.1:c.676G>A	NP_001153245.1:p.Val226Met
NM_138793.3:c.676G>A	NP_620148.1:p.Val226Met
XM_005257020.1:c.676G>A	XP_005257077.1:p.Val226Met
XM_005257021.1:c.676G>A	XP_005257078.1:p.Val226Met
XM_005257022.1:c.676G>A	XP_005257079.1:p.Val226Met
XM_006721683.1:c.676G>A	XP_006721746.1:p.Val226Met
XM_011524291.1:c.676G>A	XP_011522593.1:p.Val226Met
XM_011524292.1:c.676G>A	XP_011522594.1:p.Val226Met
XM_011524293.1:c.676G>A	XP_011522595.1:p.Val226Met
XM_011524294.1:c.676G>A	XP_011522596.1:p.Val226Met
XM_011524295.1:c.676G>A	XP_011522597.1:p.Val226Met
XM_011524294.2:c.676G>A	XP_011522596.1:p.Val226Met
XM_011524295.2:c.676G>A	XP_011522597.1:p.Val226Met
XM_024450564.1:c.676G>A	XP_024306332.1:p.Val226Met
XR_001752424.2:n.1120G>A
NM_001159773.2:c.676G>A MANE Select	NP_001153245.1:p.Val226Met
NM_001159772.2:c.676G>A	NP_001153244.1:p.Val226Met
NM_138793.4:c.676G>A	NP_620148.1:p.Val226Met