Canonical Allele Identifier: CA357397583
Gene: FGF5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.81207594T>A (hg19) chr4:g.80286440T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286440T>A , CM000666.2:g.80286440T>A GRCh38
NC_000004.11:g.81207594T>A , CM000666.1:g.81207594T>A GRCh37
NC_000004.10:g.81426618T>A NCBI36
NG_029501.1:g.24853T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.575T>A MANE Select ENSP00000311697.7:p.Leu192Gln
ENST00000312465.11:c.575T>A ENSP00000311697.7:p.Leu192Gln
ENST00000456523.3:c.*99T>A ENSP00000398353.3:n.*99T>A
ENST00000503413.1:n.524T>A
ENST00000507780.1:c.342+11428T>A ENSP00000423903.1:n.342+11428T>A
NM_001291812.1:c.146T>A NP_001278741.1:p.Leu49Gln
NM_004464.3:c.575T>A NP_004455.2:p.Leu192Gln
NM_033143.2:c.*99T>A NP_149134.1:n.*99T>A
NM_001291812.2:c.146T>A NP_001278741.1:p.Leu49Gln
NM_004464.4:c.575T>A MANE Select NP_004455.2:p.Leu192Gln
Search 100 bp 5'
Search 100 bp 3'