Canonical Allele Identifier: CA358127832

Gene: FAT4

Linked Data

• gnomAD v4: 4-125468607-T-C
• MyVariant Identifiers: chr4:g.126389762T>C (hg19) ; chr4:g.125468607T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125468607T>C , CM000666.2:g.125468607T>C	GRCh38
NC_000004.11:g.126389762T>C , CM000666.1:g.126389762T>C	GRCh37
NC_000004.10:g.126609212T>C	NCBI36
NG_033865.1:g.157196T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.12001T>C MANE Select	ENSP00000377862.4:p.Tyr4001His
ENST00000674496.2:c.6772T>C	ENSP00000501473.2:p.Tyr2258His
ENST00000335110.5:c.6784T>C	ENSP00000335169.5:p.Tyr2262His
ENST00000394329.7:c.11995T>C	ENSP00000377862.3:p.Tyr3999His
NM_001291285.1:c.12001T>C	NP_001278214.1:p.Tyr4001His
NM_001291303.1:c.12001T>C	NP_001278232.1:p.Tyr4001His
NM_024582.4:c.11995T>C	NP_078858.4:p.Tyr3999His
XM_011532236.1:c.12001T>C	XP_011530538.1:p.Tyr4001His
XM_011532237.1:c.6772T>C	XP_011530539.1:p.Tyr2258His
XM_011532236.2:c.12001T>C	XP_011530538.1:p.Tyr4001His
XM_011532237.2:c.6772T>C	XP_011530539.1:p.Tyr2258His
NM_001291285.2:c.12001T>C	NP_001278214.1:p.Tyr4001His
NM_001291303.3:c.12001T>C MANE Select	NP_001278232.1:p.Tyr4001His
NM_024582.5:c.11995T>C	NP_078858.4:p.Tyr3999His
NM_001291285.3:c.12001T>C	NP_001278214.1:p.Tyr4001His
NM_024582.6:c.11995T>C	NP_078858.4:p.Tyr3999His