Canonical Allele Identifier: CA357399061

Gene: FGF5

Linked Data

• MyVariant Identifiers: chr4:g.81207770G>T (hg19) ; chr4:g.80286616G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286616G>T , CM000666.2:g.80286616G>T	GRCh38
NC_000004.11:g.81207770G>T , CM000666.1:g.81207770G>T	GRCh37
NC_000004.10:g.81426794G>T	NCBI36
NG_029501.1:g.25029G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.751G>T MANE Select	ENSP00000311697.7:p.Ala251Ser
ENST00000312465.11:c.751G>T	ENSP00000311697.7:p.Ala251Ser
ENST00000456523.3:c.*275G>T	ENSP00000398353.3:n.*275G>T
ENST00000503413.1:n.700G>T
ENST00000507780.1:c.342+11604G>T	ENSP00000423903.1:n.342+11604G>T
NM_001291812.1:c.322G>T	NP_001278741.1:p.Ala108Ser
NM_004464.3:c.751G>T	NP_004455.2:p.Ala251Ser
NM_033143.2:c.*275G>T	NP_149134.1:n.*275G>T
NM_001291812.2:c.322G>T	NP_001278741.1:p.Ala108Ser
NM_004464.4:c.751G>T MANE Select	NP_004455.2:p.Ala251Ser