Canonical Allele Identifier: CA357397178
Gene: FGF5 HGNC NCBI

Linked Data

COSMIC: COSM4684534
MyVariant Identifiers: chr4:g.81207542G>A (hg19) chr4:g.80286388G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.523G>A MANE Select ENSP00000311697.7:p.Ala175Thr
ENST00000312465.11:c.523G>A ENSP00000311697.7:p.Ala175Thr
ENST00000456523.3:c.*47G>A ENSP00000398353.3:n.*47G>A
ENST00000503413.1:n.472G>A
ENST00000507780.1:c.342+11376G>A ENSP00000423903.1:n.342+11376G>A
NM_001291812.1:c.94G>A NP_001278741.1:p.Ala32Thr
NM_004464.3:c.523G>A NP_004455.2:p.Ala175Thr
NM_033143.2:c.*47G>A NP_149134.1:n.*47G>A
NM_001291812.2:c.94G>A NP_001278741.1:p.Ala32Thr
NM_004464.4:c.523G>A MANE Select NP_004455.2:p.Ala175Thr
Search 100 bp 5'
Search 100 bp 3'