Canonical Allele Identifier: CA357397333

Gene: FGF5

Linked Data

• MyVariant Identifiers: chr4:g.81207560A>C (hg19) ; chr4:g.80286406A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286406A>C , CM000666.2:g.80286406A>C	GRCh38
NC_000004.11:g.81207560A>C , CM000666.1:g.81207560A>C	GRCh37
NC_000004.10:g.81426584A>C	NCBI36
NG_029501.1:g.24819A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.541A>C MANE Select	ENSP00000311697.7:p.Thr181Pro
ENST00000312465.11:c.541A>C	ENSP00000311697.7:p.Thr181Pro
ENST00000456523.3:c.*65A>C	ENSP00000398353.3:n.*65A>C
ENST00000503413.1:n.490A>C
ENST00000507780.1:c.342+11394A>C	ENSP00000423903.1:n.342+11394A>C
NM_001291812.1:c.112A>C	NP_001278741.1:p.Thr38Pro
NM_004464.3:c.541A>C	NP_004455.2:p.Thr181Pro
NM_033143.2:c.*65A>C	NP_149134.1:n.*65A>C
NM_001291812.2:c.112A>C	NP_001278741.1:p.Thr38Pro
NM_004464.4:c.541A>C MANE Select	NP_004455.2:p.Thr181Pro