Canonical Allele Identifier: CA2671179945

Gene: FGF5

Linked Data

• gnomAD v4: 4-80286799-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286799A>C , CM000666.2:g.80286799A>C	GRCh38
NC_000004.11:g.81207953A>C , CM000666.1:g.81207953A>C	GRCh37
NC_000004.10:g.81426977A>C	NCBI36
NG_029501.1:g.25212A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.*127A>C MANE Select	ENSP00000311697.7:n.*127A>C
ENST00000312465.11:c.*127A>C	ENSP00000311697.7:n.*127A>C
ENST00000456523.3:c.*458A>C	ENSP00000398353.3:n.*458A>C
ENST00000503413.1:n.883A>C
ENST00000507780.1:c.342+11787A>C	ENSP00000423903.1:n.342+11787A>C
NM_001291812.1:c.*127A>C	NP_001278741.1:n.*127A>C
NM_004464.3:c.*127A>C	NP_004455.2:n.*127A>C
NM_033143.2:c.*458A>C	NP_149134.1:n.*458A>C
NM_001291812.2:c.*127A>C	NP_001278741.1:n.*127A>C
NM_004464.4:c.*127A>C MANE Select	NP_004455.2:n.*127A>C