Canonical Allele Identifier: CA357399024

Gene: FGF5

Linked Data

• MyVariant Identifiers: chr4:g.81207765T>C (hg19) ; chr4:g.80286611T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286611T>C , CM000666.2:g.80286611T>C	GRCh38
NC_000004.11:g.81207765T>C , CM000666.1:g.81207765T>C	GRCh37
NC_000004.10:g.81426789T>C	NCBI36
NG_029501.1:g.25024T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.746T>C MANE Select	ENSP00000311697.7:p.Leu249Pro
ENST00000312465.11:c.746T>C	ENSP00000311697.7:p.Leu249Pro
ENST00000456523.3:c.*270T>C	ENSP00000398353.3:n.*270T>C
ENST00000503413.1:n.695T>C
ENST00000507780.1:c.342+11599T>C	ENSP00000423903.1:n.342+11599T>C
NM_001291812.1:c.317T>C	NP_001278741.1:p.Leu106Pro
NM_004464.3:c.746T>C	NP_004455.2:p.Leu249Pro
NM_033143.2:c.*270T>C	NP_149134.1:n.*270T>C
NM_001291812.2:c.317T>C	NP_001278741.1:p.Leu106Pro
NM_004464.4:c.746T>C MANE Select	NP_004455.2:p.Leu249Pro