Canonical Allele Identifier: CA459633943
Gene: FGF20 HGNC NCBI

Linked Data

ClinVar Variation Id: 2746828
ClinVar RCV Id: RCV003563246
MyVariant Identifiers: chr8:g.16850713T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16993204T>G , CM000670.2:g.16993204T>G GRCh38
NC_000008.10:g.16850713T>G , CM000670.1:g.16850713T>G GRCh37
NC_000008.9:g.16895084T>G NCBI36
NG_015978.1:g.13962A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.504A>C MANE Select ENSP00000180166.5:p.Ala168=
ENST00000180166.5:c.504A>C ENSP00000180166.5:p.Ala168=
ENST00000519941.1:c.208A>C
NM_019851.2:c.504A>C NP_062825.1:p.Ala168=
NM_019851.3:c.504A>C MANE Select NP_062825.1:p.Ala168=