Canonical Allele Identifier: CA357397213
Gene: FGF5 HGNC NCBI

Linked Data

gnomAD v4: 4-80286394-G-A
MyVariant Identifiers: chr4:g.81207548G>A (hg19) chr4:g.80286394G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286394G>A , CM000666.2:g.80286394G>A GRCh38
NC_000004.11:g.81207548G>A , CM000666.1:g.81207548G>A GRCh37
NC_000004.10:g.81426572G>A NCBI36
NG_029501.1:g.24807G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.529G>A MANE Select ENSP00000311697.7:p.Ala177Thr
ENST00000312465.11:c.529G>A ENSP00000311697.7:p.Ala177Thr
ENST00000456523.3:c.*53G>A ENSP00000398353.3:n.*53G>A
ENST00000503413.1:n.478G>A
ENST00000507780.1:c.342+11382G>A ENSP00000423903.1:n.342+11382G>A
NM_001291812.1:c.100G>A NP_001278741.1:p.Ala34Thr
NM_004464.3:c.529G>A NP_004455.2:p.Ala177Thr
NM_033143.2:c.*53G>A NP_149134.1:n.*53G>A
NM_001291812.2:c.100G>A NP_001278741.1:p.Ala34Thr
NM_004464.4:c.529G>A MANE Select NP_004455.2:p.Ala177Thr
Search 100 bp 5'
Search 100 bp 3'