Canonical Allele Identifier: CA3073093

Gene: FAT4

Linked Data

• ClinVar Variation Id: 2868865
• ClinVar RCV Id: RCV003698214
• dbSNP Id: rs374283543
• ExAC: 4:126355479 T / C
• gnomAD v2: 4-126355479-T-C
• gnomAD v4: 4-125434324-T-C
• MyVariant Identifiers: chr4:g.126355479T>C (hg19) ; chr4:g.125434324T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125434324T>C , CM000666.2:g.125434324T>C	GRCh38
NC_000004.11:g.126355479T>C , CM000666.1:g.126355479T>C	GRCh37
NC_000004.10:g.126574929T>C	NCBI36
NG_033865.1:g.122913T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000394329.9:c.7098T>C MANE Select	ENSP00000377862.4:p.Ser2366=
ENST00000674496.2:c.1869T>C	ENSP00000501473.2:p.Ser623=
ENST00000335110.5:c.1992T>C	ENSP00000335169.5:p.Ser664=
ENST00000394329.7:c.7098T>C	ENSP00000377862.3:p.Ser2366=
NM_001291285.1:c.7098T>C	NP_001278214.1:p.Ser2366=
NM_001291303.1:c.7098T>C	NP_001278232.1:p.Ser2366=
NM_024582.4:c.7098T>C	NP_078858.4:p.Ser2366=
XM_011532236.1:c.7098T>C	XP_011530538.1:p.Ser2366=
XM_011532237.1:c.1869T>C	XP_011530539.1:p.Ser623=
XM_011532236.2:c.7098T>C	XP_011530538.1:p.Ser2366=
XM_011532237.2:c.1869T>C	XP_011530539.1:p.Ser623=
NM_001291285.2:c.7098T>C	NP_001278214.1:p.Ser2366=
NM_001291303.3:c.7098T>C MANE Select	NP_001278232.1:p.Ser2366=
NM_024582.5:c.7098T>C	NP_078858.4:p.Ser2366=
NM_001291285.3:c.7098T>C	NP_001278214.1:p.Ser2366=
NM_024582.6:c.7098T>C	NP_078858.4:p.Ser2366=