Canonical Allele Identifier: CA358118324

Gene: FAT4

Linked Data

• ClinVar Variation Id: 1375475
• ClinVar RCV Id: RCV001902450
• dbSNP Id: rs1371537193
• gnomAD v4: 4-125318047-T-C
• MyVariant Identifiers: chr4:g.126239202T>C (hg19) ; chr4:g.125318047T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125318047T>C , CM000666.2:g.125318047T>C	GRCh38
NC_000004.11:g.126239202T>C , CM000666.1:g.126239202T>C	GRCh37
NC_000004.10:g.126458652T>C	NCBI36
NG_033865.1:g.6636T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.1636T>C MANE Select	ENSP00000377862.4:p.Ser546Pro
ENST00000674496.2:c.-55+2070T>C	ENSP00000501473.2:n.-55+2070T>C
ENST00000394329.7:c.1636T>C	ENSP00000377862.3:p.Ser546Pro
NM_001291285.1:c.1636T>C	NP_001278214.1:p.Ser546Pro
NM_001291303.1:c.1636T>C	NP_001278232.1:p.Ser546Pro
NM_024582.4:c.1636T>C	NP_078858.4:p.Ser546Pro
XM_011532236.1:c.1636T>C	XP_011530538.1:p.Ser546Pro
XM_011532237.1:c.-55+2070T>C	XP_011530539.1:n.-55+2070T>C
XM_011532236.2:c.1636T>C	XP_011530538.1:p.Ser546Pro
XM_011532237.2:c.-55+2070T>C	XP_011530539.1:n.-55+2070T>C
NM_001291285.2:c.1636T>C	NP_001278214.1:p.Ser546Pro
NM_001291303.3:c.1636T>C MANE Select	NP_001278232.1:p.Ser546Pro
NM_024582.5:c.1636T>C	NP_078858.4:p.Ser546Pro
NM_001291285.3:c.1636T>C	NP_001278214.1:p.Ser546Pro
NM_024582.6:c.1636T>C	NP_078858.4:p.Ser546Pro