Canonical Allele Identifier: CA357398231

Gene: FGF5

Linked Data

• dbSNP Id: rs1227254584
• gnomAD v2: 4-81207682-G-C
• gnomAD v4: 4-80286528-G-C
• MyVariant Identifiers: chr4:g.81207682G>C (hg19) ; chr4:g.80286528G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286528G>C , CM000666.2:g.80286528G>C	GRCh38
NC_000004.11:g.81207682G>C , CM000666.1:g.81207682G>C	GRCh37
NC_000004.10:g.81426706G>C	NCBI36
NG_029501.1:g.24941G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.663G>C MANE Select	ENSP00000311697.7:p.Gln221His
ENST00000312465.11:c.663G>C	ENSP00000311697.7:p.Gln221His
ENST00000456523.3:c.*187G>C	ENSP00000398353.3:n.*187G>C
ENST00000503413.1:n.612G>C
ENST00000507780.1:c.342+11516G>C	ENSP00000423903.1:n.342+11516G>C
NM_001291812.1:c.234G>C	NP_001278741.1:p.Gln78His
NM_004464.3:c.663G>C	NP_004455.2:p.Gln221His
NM_033143.2:c.*187G>C	NP_149134.1:n.*187G>C
NM_001291812.2:c.234G>C	NP_001278741.1:p.Gln78His
NM_004464.4:c.663G>C MANE Select	NP_004455.2:p.Gln221His