Canonical Allele Identifier: CA2827986
Gene: HGFAC HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.3443088C>T
GRCh37 chr4:g.3444815C>T
Revel Score:
ENST00000382774 (MANE Select) 0.199
ENST00000511533 0.199
gnomAD v2:
4:3444815 C / T
gnomAD v3:
4:3443088 C / T
gnomAD v4:
chr4-3443088-C-T
Joint Max Group AF 0.00007647 (SAS)
Genomes Max Group AF 0.0000787 (AFR)
Exomes Max Group AF 0.00007166 (SAS)
ClinVar RCV:
RCV004096017
ClinVar Variation:
2233424
dbSNP:
556671223
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3443088C>T , CM000666.2:g.3443088C>T GRCh38
NC_000004.11:g.3444815C>T , CM000666.1:g.3444815C>T GRCh37
NC_000004.10:g.3414613C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382774.8:c.337C>T MANE Select ENSP00000372224.4:p.Arg113Cys
ENST00000382774.7:c.337C>T ENSP00000372224.3:p.Arg113Cys
ENST00000511533.1:c.337C>T ENSP00000421801.1:p.Arg113Cys
NM_001297439.1:c.337C>T NP_001284368.1:p.Arg113Cys
NM_001528.3:c.337C>T NP_001519.1:p.Arg113Cys
XM_011513458.1:c.298+176C>T XP_011511760.1:n.298+176C>T
XR_924945.1:n.364C>T
NM_001297439.2:c.337C>T NP_001284368.1:p.Arg113Cys
NM_001528.4:c.337C>T MANE Select NP_001519.1:p.Arg113Cys
Search 100 bp 5'
Search 100 bp 3'