Canonical Allele Identifier: CA502137530

Gene: CANT1

Linked Data

• ClinVar Variation Id: 3010689
• ClinVar RCV Id: RCV003862328
• dbSNP Id: rs2070922271
• gnomAD v3: 17-78993795-G-A
• gnomAD v4: 17-78993795-G-A
• MyVariant Identifiers: chr17:g.76989877G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78993795G>A , CM000679.2:g.78993795G>A	GRCh38
NC_000017.10:g.76989877G>A , CM000679.1:g.76989877G>A	GRCh37
NC_000017.9:g.74501472G>A	NCBI36
NG_016645.1:g.21023C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392446.10:c.961C>T MANE Select	ENSP00000376241.4:p.Leu321=
ENST00000302345.6:c.961C>T	ENSP00000307674.2:p.Leu321=
ENST00000392446.9:c.961C>T	ENSP00000376241.4:p.Leu321=
ENST00000588096.1:n.358C>T
ENST00000591773.5:c.961C>T	ENSP00000467437.1:p.Leu321=
ENST00000592228.1:c.648-1034C>T	ENSP00000466743.1:n.648-1034C>T
ENST00000620915.4:c.961C>T	ENSP00000477798.1:p.Leu321=
NM_001159772.1:c.961C>T	NP_001153244.1:p.Leu321=
NM_001159773.1:c.961C>T	NP_001153245.1:p.Leu321=
NM_138793.3:c.961C>T	NP_620148.1:p.Leu321=
XM_005257020.1:c.961C>T	XP_005257077.1:p.Leu321=
XM_005257021.1:c.961C>T	XP_005257078.1:p.Leu321=
XM_005257022.1:c.961C>T	XP_005257079.1:p.Leu321=
XM_006721683.1:c.961C>T	XP_006721746.1:p.Leu321=
XM_011524291.1:c.961C>T	XP_011522593.1:p.Leu321=
XM_011524292.1:c.961C>T	XP_011522594.1:p.Leu321=
XM_011524293.1:c.961C>T	XP_011522595.1:p.Leu321=
XM_011524294.1:c.961C>T	XP_011522596.1:p.Leu321=
XM_011524295.1:c.961C>T	XP_011522597.1:p.Leu321=
XM_011524294.2:c.961C>T	XP_011522596.1:p.Leu321=
XM_011524295.2:c.961C>T	XP_011522597.1:p.Leu321=
XM_024450564.1:c.961C>T	XP_024306332.1:p.Leu321=
XR_001752424.2:n.1405C>T
NM_001159773.2:c.961C>T MANE Select	NP_001153245.1:p.Leu321=
NM_001159772.2:c.961C>T	NP_001153244.1:p.Leu321=
NM_138793.4:c.961C>T	NP_620148.1:p.Leu321=