Canonical Allele Identifier: CA2982750
Gene: FGF5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2492427
ClinVar RCV Id: RCV004280459
dbSNP Id: rs770450045
ExAC: 4:81207776 C / T
gnomAD v2: 4-81207776-C-T
gnomAD v3: 4-80286622-C-T
gnomAD v4: 4-80286622-C-T
MyVariant Identifiers: chr4:g.81207776C>T (hg19) chr4:g.80286622C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286622C>T , CM000666.2:g.80286622C>T GRCh38
NC_000004.11:g.81207776C>T , CM000666.1:g.81207776C>T GRCh37
NC_000004.10:g.81426800C>T NCBI36
NG_029501.1:g.25035C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.757C>T MANE Select ENSP00000311697.7:p.Arg253Trp
ENST00000312465.11:c.757C>T ENSP00000311697.7:p.Arg253Trp
ENST00000456523.3:c.*281C>T ENSP00000398353.3:n.*281C>T
ENST00000503413.1:n.706C>T
ENST00000507780.1:c.342+11610C>T ENSP00000423903.1:n.342+11610C>T
NM_001291812.1:c.328C>T NP_001278741.1:p.Arg110Trp
NM_004464.3:c.757C>T NP_004455.2:p.Arg253Trp
NM_033143.2:c.*281C>T NP_149134.1:n.*281C>T
NM_001291812.2:c.328C>T NP_001278741.1:p.Arg110Trp
NM_004464.4:c.757C>T MANE Select NP_004455.2:p.Arg253Trp
Search 100 bp 5'
Search 100 bp 3'