Canonical Allele Identifier: CA358138648

Gene: FAT4

Linked Data

• dbSNP Id: rs1276685535
• gnomAD v2: 4-126367543-A-G
• gnomAD v4: 4-125446388-A-G
• MyVariant Identifiers: chr4:g.126367543A>G (hg19) ; chr4:g.125446388A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125446388A>G , CM000666.2:g.125446388A>G	GRCh38
NC_000004.11:g.126367543A>G , CM000666.1:g.126367543A>G	GRCh37
NC_000004.10:g.126586993A>G	NCBI36
NG_033865.1:g.134977A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.7295A>G MANE Select	ENSP00000377862.4:p.Asn2432Ser
ENST00000674496.2:c.2066A>G	ENSP00000501473.2:p.Asn689Ser
ENST00000335110.5:c.2183A>G	ENSP00000335169.5:p.Asn728Ser
ENST00000394329.7:c.7289A>G	ENSP00000377862.3:p.Asn2430Ser
ENST00000509444.1:n.278A>G
NM_001291285.1:c.7295A>G	NP_001278214.1:p.Asn2432Ser
NM_001291303.1:c.7295A>G	NP_001278232.1:p.Asn2432Ser
NM_024582.4:c.7289A>G	NP_078858.4:p.Asn2430Ser
XM_011532236.1:c.7295A>G	XP_011530538.1:p.Asn2432Ser
XM_011532237.1:c.2066A>G	XP_011530539.1:p.Asn689Ser
XM_011532236.2:c.7295A>G	XP_011530538.1:p.Asn2432Ser
XM_011532237.2:c.2066A>G	XP_011530539.1:p.Asn689Ser
NM_001291285.2:c.7295A>G	NP_001278214.1:p.Asn2432Ser
NM_001291303.3:c.7295A>G MANE Select	NP_001278232.1:p.Asn2432Ser
NM_024582.5:c.7289A>G	NP_078858.4:p.Asn2430Ser
NM_001291285.3:c.7295A>G	NP_001278214.1:p.Asn2432Ser
NM_024582.6:c.7289A>G	NP_078858.4:p.Asn2430Ser