Canonical Allele Identifier: CA3073103

Gene: FAT4

Linked Data

• ClinVar Variation Id: 2196773
• ClinVar RCV Id: RCV002624444 ; RCV002624445
• dbSNP Id: rs368024062
• ExAC: 4:126355532 T / C
• gnomAD v2: 4-126355532-T-C
• gnomAD v3: 4-125434377-T-C
• gnomAD v4: 4-125434377-T-C
• MyVariant Identifiers: chr4:g.126355532T>C (hg19) ; chr4:g.125434377T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125434377T>C , CM000666.2:g.125434377T>C	GRCh38
NC_000004.11:g.126355532T>C , CM000666.1:g.126355532T>C	GRCh37
NC_000004.10:g.126574982T>C	NCBI36
NG_033865.1:g.122966T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.7151T>C MANE Select	ENSP00000377862.4:p.Leu2384Ser
ENST00000674496.2:c.1922T>C	ENSP00000501473.2:p.Leu641Ser
ENST00000335110.5:c.2045T>C	ENSP00000335169.5:p.Leu682Ser
ENST00000394329.7:c.7151T>C	ENSP00000377862.3:p.Leu2384Ser
NM_001291285.1:c.7151T>C	NP_001278214.1:p.Leu2384Ser
NM_001291303.1:c.7151T>C	NP_001278232.1:p.Leu2384Ser
NM_024582.4:c.7151T>C	NP_078858.4:p.Leu2384Ser
XM_011532236.1:c.7151T>C	XP_011530538.1:p.Leu2384Ser
XM_011532237.1:c.1922T>C	XP_011530539.1:p.Leu641Ser
XM_011532236.2:c.7151T>C	XP_011530538.1:p.Leu2384Ser
XM_011532237.2:c.1922T>C	XP_011530539.1:p.Leu641Ser
NM_001291285.2:c.7151T>C	NP_001278214.1:p.Leu2384Ser
NM_001291303.3:c.7151T>C MANE Select	NP_001278232.1:p.Leu2384Ser
NM_024582.5:c.7151T>C	NP_078858.4:p.Leu2384Ser
NM_001291285.3:c.7151T>C	NP_001278214.1:p.Leu2384Ser
NM_024582.6:c.7151T>C	NP_078858.4:p.Leu2384Ser