Canonical Allele Identifier: CA358135526

Gene: FAT4

Linked Data

• gnomAD v4: 4-125434421-A-C
• MyVariant Identifiers: chr4:g.126355576A>C (hg19) ; chr4:g.125434421A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125434421A>C , CM000666.2:g.125434421A>C	GRCh38
NC_000004.11:g.126355576A>C , CM000666.1:g.126355576A>C	GRCh37
NC_000004.10:g.126575026A>C	NCBI36
NG_033865.1:g.123010A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.7195A>C MANE Select	ENSP00000377862.4:p.Ile2399Leu
ENST00000674496.2:c.1966A>C	ENSP00000501473.2:p.Ile656Leu
ENST00000335110.5:c.2089A>C	ENSP00000335169.5:p.Ile697Leu
ENST00000394329.7:c.7195A>C	ENSP00000377862.3:p.Ile2399Leu
NM_001291285.1:c.7195A>C	NP_001278214.1:p.Ile2399Leu
NM_001291303.1:c.7195A>C	NP_001278232.1:p.Ile2399Leu
NM_024582.4:c.7195A>C	NP_078858.4:p.Ile2399Leu
XM_011532236.1:c.7195A>C	XP_011530538.1:p.Ile2399Leu
XM_011532237.1:c.1966A>C	XP_011530539.1:p.Ile656Leu
XM_011532236.2:c.7195A>C	XP_011530538.1:p.Ile2399Leu
XM_011532237.2:c.1966A>C	XP_011530539.1:p.Ile656Leu
NM_001291285.2:c.7195A>C	NP_001278214.1:p.Ile2399Leu
NM_001291303.3:c.7195A>C MANE Select	NP_001278232.1:p.Ile2399Leu
NM_024582.5:c.7195A>C	NP_078858.4:p.Ile2399Leu
NM_001291285.3:c.7195A>C	NP_001278214.1:p.Ile2399Leu
NM_024582.6:c.7195A>C	NP_078858.4:p.Ile2399Leu