Canonical Allele Identifier: CA1064597128

Gene: FGF5

Linked Data

• dbSNP Id: rs1720739808
• gnomAD v3: 4-80286673-T-C
• gnomAD v4: 4-80286673-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286673T>C , CM000666.2:g.80286673T>C	GRCh38
NC_000004.11:g.81207827T>C , CM000666.1:g.81207827T>C	GRCh37
NC_000004.10:g.81426851T>C	NCBI36
NG_029501.1:g.25086T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.*1T>C MANE Select	ENSP00000311697.7:n.*1T>C
ENST00000312465.11:c.*1T>C	ENSP00000311697.7:n.*1T>C
ENST00000456523.3:c.*332T>C	ENSP00000398353.3:n.*332T>C
ENST00000503413.1:n.757T>C
ENST00000507780.1:c.342+11661T>C	ENSP00000423903.1:n.342+11661T>C
NM_001291812.1:c.*1T>C	NP_001278741.1:n.*1T>C
NM_004464.3:c.*1T>C	NP_004455.2:n.*1T>C
NM_033143.2:c.*332T>C	NP_149134.1:n.*332T>C
NM_001291812.2:c.*1T>C	NP_001278741.1:n.*1T>C
NM_004464.4:c.*1T>C MANE Select	NP_004455.2:n.*1T>C