Canonical Allele Identifier: CA357396877

Gene: FGF5

Linked Data

• COSMIC: COSM3606406
• MyVariant Identifiers: chr4:g.81207518C>T (hg19) ; chr4:g.80286364C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286364C>T , CM000666.2:g.80286364C>T	GRCh38
NC_000004.11:g.81207518C>T , CM000666.1:g.81207518C>T	GRCh37
NC_000004.10:g.81426542C>T	NCBI36
NG_029501.1:g.24777C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.499C>T MANE Select	ENSP00000311697.7:p.Gln167Ter
ENST00000312465.11:c.499C>T	ENSP00000311697.7:p.Gln167Ter
ENST00000456523.3:c.*23C>T	ENSP00000398353.3:n.*23C>T
ENST00000503413.1:n.448C>T
ENST00000507780.1:c.342+11352C>T	ENSP00000423903.1:n.342+11352C>T
NM_001291812.1:c.70C>T	NP_001278741.1:p.Gln24Ter
NM_004464.3:c.499C>T	NP_004455.2:p.Gln167Ter
NM_033143.2:c.*23C>T	NP_149134.1:n.*23C>T
NM_001291812.2:c.70C>T	NP_001278741.1:p.Gln24Ter
NM_004464.4:c.499C>T MANE Select	NP_004455.2:p.Gln167Ter