Canonical Allele Identifier: CA358138429

Gene: FAT4

Linked Data

• gnomAD v4: 4-125446357-A-C
• MyVariant Identifiers: chr4:g.126367512A>C (hg19) ; chr4:g.125446357A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125446357A>C , CM000666.2:g.125446357A>C	GRCh38
NC_000004.11:g.126367512A>C , CM000666.1:g.126367512A>C	GRCh37
NC_000004.10:g.126586962A>C	NCBI36
NG_033865.1:g.134946A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.7264A>C MANE Select	ENSP00000377862.4:p.Ser2422Arg
ENST00000674496.2:c.2035A>C	ENSP00000501473.2:p.Ser679Arg
ENST00000335110.5:c.2152A>C	ENSP00000335169.5:p.Ser718Arg
ENST00000394329.7:c.7258A>C	ENSP00000377862.3:p.Ser2420Arg
ENST00000509444.1:n.247A>C
NM_001291285.1:c.7264A>C	NP_001278214.1:p.Ser2422Arg
NM_001291303.1:c.7264A>C	NP_001278232.1:p.Ser2422Arg
NM_024582.4:c.7258A>C	NP_078858.4:p.Ser2420Arg
XM_011532236.1:c.7264A>C	XP_011530538.1:p.Ser2422Arg
XM_011532237.1:c.2035A>C	XP_011530539.1:p.Ser679Arg
XM_011532236.2:c.7264A>C	XP_011530538.1:p.Ser2422Arg
XM_011532237.2:c.2035A>C	XP_011530539.1:p.Ser679Arg
NM_001291285.2:c.7264A>C	NP_001278214.1:p.Ser2422Arg
NM_001291303.3:c.7264A>C MANE Select	NP_001278232.1:p.Ser2422Arg
NM_024582.5:c.7258A>C	NP_078858.4:p.Ser2420Arg
NM_001291285.3:c.7264A>C	NP_001278214.1:p.Ser2422Arg
NM_024582.6:c.7258A>C	NP_078858.4:p.Ser2420Arg