Canonical Allele Identifier: CA357397221

Gene: FGF5

Linked Data

• COSMIC: COSM3783828
• MyVariant Identifiers: chr4:g.81207548G>T (hg19) ; chr4:g.80286394G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.529G>T MANE Select	ENSP00000311697.7:p.Ala177Ser
ENST00000312465.11:c.529G>T	ENSP00000311697.7:p.Ala177Ser
ENST00000456523.3:c.*53G>T	ENSP00000398353.3:n.*53G>T
ENST00000503413.1:n.478G>T
ENST00000507780.1:c.342+11382G>T	ENSP00000423903.1:n.342+11382G>T
NM_001291812.1:c.100G>T	NP_001278741.1:p.Ala34Ser
NM_004464.3:c.529G>T	NP_004455.2:p.Ala177Ser
NM_033143.2:c.*53G>T	NP_149134.1:n.*53G>T
NM_001291812.2:c.100G>T	NP_001278741.1:p.Ala34Ser
NM_004464.4:c.529G>T MANE Select	NP_004455.2:p.Ala177Ser