Canonical Allele Identifier: CA440227638

Gene: FGF5

Linked Data

• gnomAD v4: 4-80286585-T-C
• MyVariant Identifiers: chr4:g.81207739T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286585T>C , CM000666.2:g.80286585T>C	GRCh38
NC_000004.11:g.81207739T>C , CM000666.1:g.81207739T>C	GRCh37
NC_000004.10:g.81426763T>C	NCBI36
NG_029501.1:g.24998T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.720T>C MANE Select	ENSP00000311697.7:p.Pro240=
ENST00000312465.11:c.720T>C	ENSP00000311697.7:p.Pro240=
ENST00000456523.3:c.*244T>C	ENSP00000398353.3:n.*244T>C
ENST00000503413.1:n.669T>C
ENST00000507780.1:c.342+11573T>C	ENSP00000423903.1:n.342+11573T>C
NM_001291812.1:c.291T>C	NP_001278741.1:p.Pro97=
NM_004464.3:c.720T>C	NP_004455.2:p.Pro240=
NM_033143.2:c.*244T>C	NP_149134.1:n.*244T>C
NM_001291812.2:c.291T>C	NP_001278741.1:p.Pro97=
NM_004464.4:c.720T>C MANE Select	NP_004455.2:p.Pro240=