Canonical Allele Identifier: CA357397564
Gene: FGF5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.81207588T>C (hg19) chr4:g.80286434T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286434T>C , CM000666.2:g.80286434T>C GRCh38
NC_000004.11:g.81207588T>C , CM000666.1:g.81207588T>C GRCh37
NC_000004.10:g.81426612T>C NCBI36
NG_029501.1:g.24847T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.569T>C MANE Select ENSP00000311697.7:p.Val190Ala
ENST00000312465.11:c.569T>C ENSP00000311697.7:p.Val190Ala
ENST00000456523.3:c.*93T>C ENSP00000398353.3:n.*93T>C
ENST00000503413.1:n.518T>C
ENST00000507780.1:c.342+11422T>C ENSP00000423903.1:n.342+11422T>C
NM_001291812.1:c.140T>C NP_001278741.1:p.Val47Ala
NM_004464.3:c.569T>C NP_004455.2:p.Val190Ala
NM_033143.2:c.*93T>C NP_149134.1:n.*93T>C
NM_001291812.2:c.140T>C NP_001278741.1:p.Val47Ala
NM_004464.4:c.569T>C MANE Select NP_004455.2:p.Val190Ala
Search 100 bp 5'
Search 100 bp 3'