Canonical Allele Identifier: CA358120179

Gene: FAT4

Linked Data

• dbSNP Id: rs531595537
• gnomAD v4: 4-125318783-C-A
• MyVariant Identifiers: chr4:g.126239938C>A (hg19) ; chr4:g.125318783C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125318783C>A , CM000666.2:g.125318783C>A	GRCh38
NC_000004.11:g.126239938C>A , CM000666.1:g.126239938C>A	GRCh37
NC_000004.10:g.126459388C>A	NCBI36
NG_033865.1:g.7372C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.2372C>A MANE Select	ENSP00000377862.4:p.Pro791His
ENST00000674496.2:c.-55+2806C>A	ENSP00000501473.2:n.-55+2806C>A
ENST00000394329.7:c.2372C>A	ENSP00000377862.3:p.Pro791His
NM_001291285.1:c.2372C>A	NP_001278214.1:p.Pro791His
NM_001291303.1:c.2372C>A	NP_001278232.1:p.Pro791His
NM_024582.4:c.2372C>A	NP_078858.4:p.Pro791His
XM_011532236.1:c.2372C>A	XP_011530538.1:p.Pro791His
XM_011532237.1:c.-55+2806C>A	XP_011530539.1:n.-55+2806C>A
XM_011532236.2:c.2372C>A	XP_011530538.1:p.Pro791His
XM_011532237.2:c.-55+2806C>A	XP_011530539.1:n.-55+2806C>A
NM_001291285.2:c.2372C>A	NP_001278214.1:p.Pro791His
NM_001291303.3:c.2372C>A MANE Select	NP_001278232.1:p.Pro791His
NM_024582.5:c.2372C>A	NP_078858.4:p.Pro791His
NM_001291285.3:c.2372C>A	NP_001278214.1:p.Pro791His
NM_024582.6:c.2372C>A	NP_078858.4:p.Pro791His