Canonical Allele Identifier: CA357397342

Gene: FGF5

Linked Data

• gnomAD v3: 4-80286407-C-A
• gnomAD v4: 4-80286407-C-A
• MyVariant Identifiers: chr4:g.81207561C>A (hg19) ; chr4:g.80286407C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286407C>A , CM000666.2:g.80286407C>A	GRCh38
NC_000004.11:g.81207561C>A , CM000666.1:g.81207561C>A	GRCh37
NC_000004.10:g.81426585C>A	NCBI36
NG_029501.1:g.24820C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.542C>A MANE Select	ENSP00000311697.7:p.Thr181Asn
ENST00000312465.11:c.542C>A	ENSP00000311697.7:p.Thr181Asn
ENST00000456523.3:c.*66C>A	ENSP00000398353.3:n.*66C>A
ENST00000503413.1:n.491C>A
ENST00000507780.1:c.342+11395C>A	ENSP00000423903.1:n.342+11395C>A
NM_001291812.1:c.113C>A	NP_001278741.1:p.Thr38Asn
NM_004464.3:c.542C>A	NP_004455.2:p.Thr181Asn
NM_033143.2:c.*66C>A	NP_149134.1:n.*66C>A
NM_001291812.2:c.113C>A	NP_001278741.1:p.Thr38Asn
NM_004464.4:c.542C>A MANE Select	NP_004455.2:p.Thr181Asn