Canonical Allele Identifier: CA2982746
Gene: FGF5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2278008
ClinVar RCV Id: RCV004131090
dbSNP Id: rs752623488
ExAC: 4:81207757 G / C
gnomAD v2: 4-81207757-G-C
gnomAD v3: 4-80286603-G-C
gnomAD v4: 4-80286603-G-C
MyVariant Identifiers: chr4:g.81207757G>C (hg19) chr4:g.80286603G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286603G>C , CM000666.2:g.80286603G>C GRCh38
NC_000004.11:g.81207757G>C , CM000666.1:g.81207757G>C GRCh37
NC_000004.10:g.81426781G>C NCBI36
NG_029501.1:g.25016G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.738G>C MANE Select ENSP00000311697.7:p.Lys246Asn
ENST00000312465.11:c.738G>C ENSP00000311697.7:p.Lys246Asn
ENST00000456523.3:c.*262G>C ENSP00000398353.3:n.*262G>C
ENST00000503413.1:n.687G>C
ENST00000507780.1:c.342+11591G>C ENSP00000423903.1:n.342+11591G>C
NM_001291812.1:c.309G>C NP_001278741.1:p.Lys103Asn
NM_004464.3:c.738G>C NP_004455.2:p.Lys246Asn
NM_033143.2:c.*262G>C NP_149134.1:n.*262G>C
NM_001291812.2:c.309G>C NP_001278741.1:p.Lys103Asn
NM_004464.4:c.738G>C MANE Select NP_004455.2:p.Lys246Asn
Search 100 bp 5'
Search 100 bp 3'