Canonical Allele Identifier: CA357399343

Gene: FGF5

Linked Data

• gnomAD v4: 4-80286650-G-C
• MyVariant Identifiers: chr4:g.81207804G>C (hg19) ; chr4:g.80286650G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286650G>C , CM000666.2:g.80286650G>C	GRCh38
NC_000004.11:g.81207804G>C , CM000666.1:g.81207804G>C	GRCh37
NC_000004.10:g.81426828G>C	NCBI36
NG_029501.1:g.25063G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.785G>C MANE Select	ENSP00000311697.7:p.Arg262Thr
ENST00000312465.11:c.785G>C	ENSP00000311697.7:p.Arg262Thr
ENST00000456523.3:c.*309G>C	ENSP00000398353.3:n.*309G>C
ENST00000503413.1:n.734G>C
ENST00000507780.1:c.342+11638G>C	ENSP00000423903.1:n.342+11638G>C
NM_001291812.1:c.356G>C	NP_001278741.1:p.Arg119Thr
NM_004464.3:c.785G>C	NP_004455.2:p.Arg262Thr
NM_033143.2:c.*309G>C	NP_149134.1:n.*309G>C
NM_001291812.2:c.356G>C	NP_001278741.1:p.Arg119Thr
NM_004464.4:c.785G>C MANE Select	NP_004455.2:p.Arg262Thr