Canonical Allele Identifier: CA401306929

Gene: CANT1

Linked Data

• gnomAD v4: 17-78993907-A-C
• MyVariant Identifiers: chr17:g.76989989A>C (hg19) ; chr17:g.78993907A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78993907A>C , CM000679.2:g.78993907A>C	GRCh38
NC_000017.10:g.76989989A>C , CM000679.1:g.76989989A>C	GRCh37
NC_000017.9:g.74501584A>C	NCBI36
NG_016645.1:g.20911T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392446.10:c.849T>G MANE Select	ENSP00000376241.4:p.His283Gln
ENST00000302345.6:c.849T>G	ENSP00000307674.2:p.His283Gln
ENST00000392446.9:c.849T>G	ENSP00000376241.4:p.His283Gln
ENST00000588096.1:n.246T>G
ENST00000591773.5:c.849T>G	ENSP00000467437.1:p.His283Gln
ENST00000592228.1:c.648-1146T>G	ENSP00000466743.1:n.648-1146T>G
ENST00000620915.4:c.849T>G	ENSP00000477798.1:p.His283Gln
NM_001159772.1:c.849T>G	NP_001153244.1:p.His283Gln
NM_001159773.1:c.849T>G	NP_001153245.1:p.His283Gln
NM_138793.3:c.849T>G	NP_620148.1:p.His283Gln
XM_005257020.1:c.849T>G	XP_005257077.1:p.His283Gln
XM_005257021.1:c.849T>G	XP_005257078.1:p.His283Gln
XM_005257022.1:c.849T>G	XP_005257079.1:p.His283Gln
XM_006721683.1:c.849T>G	XP_006721746.1:p.His283Gln
XM_011524291.1:c.849T>G	XP_011522593.1:p.His283Gln
XM_011524292.1:c.849T>G	XP_011522594.1:p.His283Gln
XM_011524293.1:c.849T>G	XP_011522595.1:p.His283Gln
XM_011524294.1:c.849T>G	XP_011522596.1:p.His283Gln
XM_011524295.1:c.849T>G	XP_011522597.1:p.His283Gln
XM_011524294.2:c.849T>G	XP_011522596.1:p.His283Gln
XM_011524295.2:c.849T>G	XP_011522597.1:p.His283Gln
XM_024450564.1:c.849T>G	XP_024306332.1:p.His283Gln
XR_001752424.2:n.1293T>G
NM_001159773.2:c.849T>G MANE Select	NP_001153245.1:p.His283Gln
NM_001159772.2:c.849T>G	NP_001153244.1:p.His283Gln
NM_138793.4:c.849T>G	NP_620148.1:p.His283Gln