Canonical Allele Identifier: CA100032779

Gene: FGF5

Linked Data

• dbSNP Id: rs1051694370
• gnomAD v4: 4-80286518-G-C
• MyVariant Identifiers: chr4:g.81207672G>C (hg19) ; chr4:g.80286518G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286518G>C , CM000666.2:g.80286518G>C	GRCh38
NC_000004.11:g.81207672G>C , CM000666.1:g.81207672G>C	GRCh37
NC_000004.10:g.81426696G>C	NCBI36
NG_029501.1:g.24931G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.653G>C MANE Select	ENSP00000311697.7:p.Arg218Thr
ENST00000312465.11:c.653G>C	ENSP00000311697.7:p.Arg218Thr
ENST00000456523.3:c.*177G>C	ENSP00000398353.3:n.*177G>C
ENST00000503413.1:n.602G>C
ENST00000507780.1:c.342+11506G>C	ENSP00000423903.1:n.342+11506G>C
NM_001291812.1:c.224G>C	NP_001278741.1:p.Arg75Thr
NM_004464.3:c.653G>C	NP_004455.2:p.Arg218Thr
NM_033143.2:c.*177G>C	NP_149134.1:n.*177G>C
NM_001291812.2:c.224G>C	NP_001278741.1:p.Arg75Thr
NM_004464.4:c.653G>C MANE Select	NP_004455.2:p.Arg218Thr