Canonical Allele Identifier: CA16618031
Gene: FAT4 HGNC NCBI

Linked Data

ClinVar Variation Id: 419544
ClinVar RCV Id: RCV000482687
dbSNP Id: rs1064793943
MyVariant Identifiers: chr4:g.126240093C>T (hg19) chr4:g.125318938C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.125318938C>T , CM000666.2:g.125318938C>T GRCh38
NC_000004.11:g.126240093C>T , CM000666.1:g.126240093C>T GRCh37
NC_000004.10:g.126459543C>T NCBI36
NG_033865.1:g.7527C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000394329.9:c.2527C>T MANE Select ENSP00000377862.4:p.Gln843Ter
ENST00000674496.2:c.-55+2961C>T ENSP00000501473.2:n.-55+2961C>T
ENST00000678072.1:n.133C>T
ENST00000394329.7:c.2527C>T ENSP00000377862.3:p.Gln843Ter
NM_001291285.1:c.2527C>T NP_001278214.1:p.Gln843Ter
NM_001291303.1:c.2527C>T NP_001278232.1:p.Gln843Ter
NM_024582.4:c.2527C>T NP_078858.4:p.Gln843Ter
XM_011532236.1:c.2527C>T XP_011530538.1:p.Gln843Ter
XM_011532237.1:c.-55+2961C>T XP_011530539.1:n.-55+2961C>T
XM_011532236.2:c.2527C>T XP_011530538.1:p.Gln843Ter
XM_011532237.2:c.-55+2961C>T XP_011530539.1:n.-55+2961C>T
NM_001291285.2:c.2527C>T NP_001278214.1:p.Gln843Ter
NM_001291303.3:c.2527C>T MANE Select NP_001278232.1:p.Gln843Ter
NM_024582.5:c.2527C>T NP_078858.4:p.Gln843Ter
NM_001291285.3:c.2527C>T NP_001278214.1:p.Gln843Ter
NM_024582.6:c.2527C>T NP_078858.4:p.Gln843Ter
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