Canonical Allele Identifier: CA553082851

Gene: FGF5

Linked Data

• dbSNP Id: rs1411924576
• gnomAD v2: 4-81207829-T-C
• gnomAD v3: 4-80286675-T-C
• gnomAD v4: 4-80286675-T-C
• MyVariant Identifiers: chr4:g.81207829T>C (hg19) ; chr4:g.80286675T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286675T>C , CM000666.2:g.80286675T>C	GRCh38
NC_000004.11:g.81207829T>C , CM000666.1:g.81207829T>C	GRCh37
NC_000004.10:g.81426853T>C	NCBI36
NG_029501.1:g.25088T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.*3T>C MANE Select	ENSP00000311697.7:n.*3T>C
ENST00000312465.11:c.*3T>C	ENSP00000311697.7:n.*3T>C
ENST00000456523.3:c.*334T>C	ENSP00000398353.3:n.*334T>C
ENST00000503413.1:n.759T>C
ENST00000507780.1:c.342+11663T>C	ENSP00000423903.1:n.342+11663T>C
NM_001291812.1:c.*3T>C	NP_001278741.1:n.*3T>C
NM_004464.3:c.*3T>C	NP_004455.2:n.*3T>C
NM_033143.2:c.*334T>C	NP_149134.1:n.*334T>C
NM_001291812.2:c.*3T>C	NP_001278741.1:n.*3T>C
NM_004464.4:c.*3T>C MANE Select	NP_004455.2:n.*3T>C