Canonical Allele Identifier: CA3072008

Gene: FAT4

Linked Data

• dbSNP Id: rs759014856
• ExAC: 4:126239121 G / A
• gnomAD v2: 4-126239121-G-A
• gnomAD v4: 4-125317966-G-A
• MyVariant Identifiers: chr4:g.126239121G>A (hg19) ; chr4:g.125317966G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125317966G>A , CM000666.2:g.125317966G>A	GRCh38
NC_000004.11:g.126239121G>A , CM000666.1:g.126239121G>A	GRCh37
NC_000004.10:g.126458571G>A	NCBI36
NG_033865.1:g.6555G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.1555G>A MANE Select	ENSP00000377862.4:p.Gly519Arg
ENST00000674496.2:c.-55+1989G>A	ENSP00000501473.2:n.-55+1989G>A
ENST00000394329.7:c.1555G>A	ENSP00000377862.3:p.Gly519Arg
NM_001291285.1:c.1555G>A	NP_001278214.1:p.Gly519Arg
NM_001291303.1:c.1555G>A	NP_001278232.1:p.Gly519Arg
NM_024582.4:c.1555G>A	NP_078858.4:p.Gly519Arg
XM_011532236.1:c.1555G>A	XP_011530538.1:p.Gly519Arg
XM_011532237.1:c.-55+1989G>A	XP_011530539.1:n.-55+1989G>A
XM_011532236.2:c.1555G>A	XP_011530538.1:p.Gly519Arg
XM_011532237.2:c.-55+1989G>A	XP_011530539.1:n.-55+1989G>A
NM_001291285.2:c.1555G>A	NP_001278214.1:p.Gly519Arg
NM_001291303.3:c.1555G>A MANE Select	NP_001278232.1:p.Gly519Arg
NM_024582.5:c.1555G>A	NP_078858.4:p.Gly519Arg
NM_001291285.3:c.1555G>A	NP_001278214.1:p.Gly519Arg
NM_024582.6:c.1555G>A	NP_078858.4:p.Gly519Arg