Canonical Allele Identifier: CA357397238
Gene: FGF5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.81207549C>G (hg19) chr4:g.80286395C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286395C>G , CM000666.2:g.80286395C>G GRCh38
NC_000004.11:g.81207549C>G , CM000666.1:g.81207549C>G GRCh37
NC_000004.10:g.81426573C>G NCBI36
NG_029501.1:g.24808C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.530C>G MANE Select ENSP00000311697.7:p.Ala177Gly
ENST00000312465.11:c.530C>G ENSP00000311697.7:p.Ala177Gly
ENST00000456523.3:c.*54C>G ENSP00000398353.3:n.*54C>G
ENST00000503413.1:n.479C>G
ENST00000507780.1:c.342+11383C>G ENSP00000423903.1:n.342+11383C>G
NM_001291812.1:c.101C>G NP_001278741.1:p.Ala34Gly
NM_004464.3:c.530C>G NP_004455.2:p.Ala177Gly
NM_033143.2:c.*54C>G NP_149134.1:n.*54C>G
NM_001291812.2:c.101C>G NP_001278741.1:p.Ala34Gly
NM_004464.4:c.530C>G MANE Select NP_004455.2:p.Ala177Gly
Search 100 bp 5'
Search 100 bp 3'