Canonical Allele Identifier: CA440227759
Gene: FGF5 HGNC NCBI

Linked Data

gnomAD v3: 4-80286408-T-A
gnomAD v4: 4-80286408-T-A
MyVariant Identifiers: chr4:g.81207562T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286408T>A , CM000666.2:g.80286408T>A GRCh38
NC_000004.11:g.81207562T>A , CM000666.1:g.81207562T>A GRCh37
NC_000004.10:g.81426586T>A NCBI36
NG_029501.1:g.24821T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.543T>A MANE Select ENSP00000311697.7:p.Thr181=
ENST00000312465.11:c.543T>A ENSP00000311697.7:p.Thr181=
ENST00000456523.3:c.*67T>A ENSP00000398353.3:n.*67T>A
ENST00000503413.1:n.492T>A
ENST00000507780.1:c.342+11396T>A ENSP00000423903.1:n.342+11396T>A
NM_001291812.1:c.114T>A NP_001278741.1:p.Thr38=
NM_004464.3:c.543T>A NP_004455.2:p.Thr181=
NM_033143.2:c.*67T>A NP_149134.1:n.*67T>A
NM_001291812.2:c.114T>A NP_001278741.1:p.Thr38=
NM_004464.4:c.543T>A MANE Select NP_004455.2:p.Thr181=
Search 100 bp 5'
Search 100 bp 3'