Canonical Allele Identifier: CA401306949

Gene: CANT1

Linked Data

• dbSNP Id: rs1315940543
• gnomAD v4: 17-78993915-G-A
• MyVariant Identifiers: chr17:g.76989997G>A (hg19) ; chr17:g.78993915G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78993915G>A , CM000679.2:g.78993915G>A	GRCh38
NC_000017.10:g.76989997G>A , CM000679.1:g.76989997G>A	GRCh37
NC_000017.9:g.74501592G>A	NCBI36
NG_016645.1:g.20903C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392446.10:c.841C>T MANE Select	ENSP00000376241.4:p.Leu281Phe
ENST00000302345.6:c.841C>T	ENSP00000307674.2:p.Leu281Phe
ENST00000392446.9:c.841C>T	ENSP00000376241.4:p.Leu281Phe
ENST00000588096.1:n.238C>T
ENST00000591773.5:c.841C>T	ENSP00000467437.1:p.Leu281Phe
ENST00000592228.1:c.648-1154C>T	ENSP00000466743.1:n.648-1154C>T
ENST00000620915.4:c.841C>T	ENSP00000477798.1:p.Leu281Phe
NM_001159772.1:c.841C>T	NP_001153244.1:p.Leu281Phe
NM_001159773.1:c.841C>T	NP_001153245.1:p.Leu281Phe
NM_138793.3:c.841C>T	NP_620148.1:p.Leu281Phe
XM_005257020.1:c.841C>T	XP_005257077.1:p.Leu281Phe
XM_005257021.1:c.841C>T	XP_005257078.1:p.Leu281Phe
XM_005257022.1:c.841C>T	XP_005257079.1:p.Leu281Phe
XM_006721683.1:c.841C>T	XP_006721746.1:p.Leu281Phe
XM_011524291.1:c.841C>T	XP_011522593.1:p.Leu281Phe
XM_011524292.1:c.841C>T	XP_011522594.1:p.Leu281Phe
XM_011524293.1:c.841C>T	XP_011522595.1:p.Leu281Phe
XM_011524294.1:c.841C>T	XP_011522596.1:p.Leu281Phe
XM_011524295.1:c.841C>T	XP_011522597.1:p.Leu281Phe
XM_011524294.2:c.841C>T	XP_011522596.1:p.Leu281Phe
XM_011524295.2:c.841C>T	XP_011522597.1:p.Leu281Phe
XM_024450564.1:c.841C>T	XP_024306332.1:p.Leu281Phe
XR_001752424.2:n.1285C>T
NM_001159773.2:c.841C>T MANE Select	NP_001153245.1:p.Leu281Phe
NM_001159772.2:c.841C>T	NP_001153244.1:p.Leu281Phe
NM_138793.4:c.841C>T	NP_620148.1:p.Leu281Phe