Canonical Allele Identifier: CA357399204

Gene: FGF5

Linked Data

• gnomAD v4: 4-80286632-C-T
• MyVariant Identifiers: chr4:g.81207786C>T (hg19) ; chr4:g.80286632C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286632C>T , CM000666.2:g.80286632C>T	GRCh38
NC_000004.11:g.81207786C>T , CM000666.1:g.81207786C>T	GRCh37
NC_000004.10:g.81426810C>T	NCBI36
NG_029501.1:g.25045C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.767C>T MANE Select	ENSP00000311697.7:p.Thr256Ile
ENST00000312465.11:c.767C>T	ENSP00000311697.7:p.Thr256Ile
ENST00000456523.3:c.*291C>T	ENSP00000398353.3:n.*291C>T
ENST00000503413.1:n.716C>T
ENST00000507780.1:c.342+11620C>T	ENSP00000423903.1:n.342+11620C>T
NM_001291812.1:c.338C>T	NP_001278741.1:p.Thr113Ile
NM_004464.3:c.767C>T	NP_004455.2:p.Thr256Ile
NM_033143.2:c.*291C>T	NP_149134.1:n.*291C>T
NM_001291812.2:c.338C>T	NP_001278741.1:p.Thr113Ile
NM_004464.4:c.767C>T MANE Select	NP_004455.2:p.Thr256Ile