Canonical Allele Identifier: CA440227787

Gene: FGF5

Linked Data

• MyVariant Identifiers: chr4:g.81207577G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286423G>C , CM000666.2:g.80286423G>C	GRCh38
NC_000004.11:g.81207577G>C , CM000666.1:g.81207577G>C	GRCh37
NC_000004.10:g.81426601G>C	NCBI36
NG_029501.1:g.24836G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.558G>C MANE Select	ENSP00000311697.7:p.Arg186=
ENST00000312465.11:c.558G>C	ENSP00000311697.7:p.Arg186=
ENST00000456523.3:c.*82G>C	ENSP00000398353.3:n.*82G>C
ENST00000503413.1:n.507G>C
ENST00000507780.1:c.342+11411G>C	ENSP00000423903.1:n.342+11411G>C
NM_001291812.1:c.129G>C	NP_001278741.1:p.Arg43=
NM_004464.3:c.558G>C	NP_004455.2:p.Arg186=
NM_033143.2:c.*82G>C	NP_149134.1:n.*82G>C
NM_001291812.2:c.129G>C	NP_001278741.1:p.Arg43=
NM_004464.4:c.558G>C MANE Select	NP_004455.2:p.Arg186=