Canonical Allele Identifier: CA2982690
Gene: FGF5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2205266
ClinVar RCV Id: RCV004073793
dbSNP Id: rs145032506
ExAC: 4:81207542 G / T
gnomAD v2: 4-81207542-G-T
gnomAD v3: 4-80286388-G-T
gnomAD v4: 4-80286388-G-T
MyVariant Identifiers: chr4:g.81207542G>T (hg19) chr4:g.80286388G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286388G>T , CM000666.2:g.80286388G>T GRCh38
NC_000004.11:g.81207542G>T , CM000666.1:g.81207542G>T GRCh37
NC_000004.10:g.81426566G>T NCBI36
NG_029501.1:g.24801G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.523G>T MANE Select ENSP00000311697.7:p.Ala175Ser
ENST00000312465.11:c.523G>T ENSP00000311697.7:p.Ala175Ser
ENST00000456523.3:c.*47G>T ENSP00000398353.3:n.*47G>T
ENST00000503413.1:n.472G>T
ENST00000507780.1:c.342+11376G>T ENSP00000423903.1:n.342+11376G>T
NM_001291812.1:c.94G>T NP_001278741.1:p.Ala32Ser
NM_004464.3:c.523G>T NP_004455.2:p.Ala175Ser
NM_033143.2:c.*47G>T NP_149134.1:n.*47G>T
NM_001291812.2:c.94G>T NP_001278741.1:p.Ala32Ser
NM_004464.4:c.523G>T MANE Select NP_004455.2:p.Ala175Ser
Search 100 bp 5'
Search 100 bp 3'