Canonical Allele Identifier: CA2982683

Gene: FGF5

Linked Data

• dbSNP Id: rs757607151
• ExAC: 4:81207511 G / T
• gnomAD v2: 4-81207511-G-T
• gnomAD v4: 4-80286357-G-T
• MyVariant Identifiers: chr4:g.81207511G>T (hg19) ; chr4:g.80286357G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286357G>T , CM000666.2:g.80286357G>T	GRCh38
NC_000004.11:g.81207511G>T , CM000666.1:g.81207511G>T	GRCh37
NC_000004.10:g.81426535G>T	NCBI36
NG_029501.1:g.24770G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.492G>T MANE Select	ENSP00000311697.7:p.Glu164Asp
ENST00000312465.11:c.492G>T	ENSP00000311697.7:p.Glu164Asp
ENST00000456523.3:c.*16G>T	ENSP00000398353.3:n.*16G>T
ENST00000503413.1:n.441G>T
ENST00000507780.1:c.342+11345G>T	ENSP00000423903.1:n.342+11345G>T
NM_001291812.1:c.63G>T	NP_001278741.1:p.Glu21Asp
NM_004464.3:c.492G>T	NP_004455.2:p.Glu164Asp
NM_033143.2:c.*16G>T	NP_149134.1:n.*16G>T
NM_001291812.2:c.63G>T	NP_001278741.1:p.Glu21Asp
NM_004464.4:c.492G>T MANE Select	NP_004455.2:p.Glu164Asp