Canonical Allele Identifier: CA2982687
Gene: FGF5 HGNC NCBI

Linked Data

dbSNP Id: rs775311039
ExAC: 4:81207531 A / G
gnomAD v2: 4-81207531-A-G
gnomAD v3: 4-80286377-A-G
gnomAD v4: 4-80286377-A-G
COSMIC: COSM227253
MyVariant Identifiers: chr4:g.81207531A>G (hg19) chr4:g.80286377A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286377A>G , CM000666.2:g.80286377A>G GRCh38
NC_000004.11:g.81207531A>G , CM000666.1:g.81207531A>G GRCh37
NC_000004.10:g.81426555A>G NCBI36
NG_029501.1:g.24790A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.512A>G MANE Select ENSP00000311697.7:p.Tyr171Cys
ENST00000312465.11:c.512A>G ENSP00000311697.7:p.Tyr171Cys
ENST00000456523.3:c.*36A>G ENSP00000398353.3:n.*36A>G
ENST00000503413.1:n.461A>G
ENST00000507780.1:c.342+11365A>G ENSP00000423903.1:n.342+11365A>G
NM_001291812.1:c.83A>G NP_001278741.1:p.Tyr28Cys
NM_004464.3:c.512A>G NP_004455.2:p.Tyr171Cys
NM_033143.2:c.*36A>G NP_149134.1:n.*36A>G
NM_001291812.2:c.83A>G NP_001278741.1:p.Tyr28Cys
NM_004464.4:c.512A>G MANE Select NP_004455.2:p.Tyr171Cys
Search 100 bp 5'
Search 100 bp 3'