Canonical Allele Identifier: CA357397534
Gene: FGF5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.81207583G>C (hg19) chr4:g.80286429G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286429G>C , CM000666.2:g.80286429G>C GRCh38
NC_000004.11:g.81207583G>C , CM000666.1:g.81207583G>C GRCh37
NC_000004.10:g.81426607G>C NCBI36
NG_029501.1:g.24842G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.564G>C MANE Select ENSP00000311697.7:p.Trp188Cys
ENST00000312465.11:c.564G>C ENSP00000311697.7:p.Trp188Cys
ENST00000456523.3:c.*88G>C ENSP00000398353.3:n.*88G>C
ENST00000503413.1:n.513G>C
ENST00000507780.1:c.342+11417G>C ENSP00000423903.1:n.342+11417G>C
NM_001291812.1:c.135G>C NP_001278741.1:p.Trp45Cys
NM_004464.3:c.564G>C NP_004455.2:p.Trp188Cys
NM_033143.2:c.*88G>C NP_149134.1:n.*88G>C
NM_001291812.2:c.135G>C NP_001278741.1:p.Trp45Cys
NM_004464.4:c.564G>C MANE Select NP_004455.2:p.Trp188Cys
Search 100 bp 5'
Search 100 bp 3'