Canonical Allele Identifier: CA4641572
Gene: FGF20 HGNC NCBI

Linked Data

ClinVar Variation Id: 2053508
ClinVar RCV Id: RCV002919093
dbSNP Id: rs10089600
ExAC: 8:16850694 G / C
gnomAD v2: 8-16850694-G-C
gnomAD v3: 8-16993185-G-C
gnomAD v4: 8-16993185-G-C
MyVariant Identifiers: chr8:g.16850694G>C (hg19) chr8:g.16993185G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16993185G>C , CM000670.2:g.16993185G>C GRCh38
NC_000008.10:g.16850694G>C , CM000670.1:g.16850694G>C GRCh37
NC_000008.9:g.16895065G>C NCBI36
NG_015978.1:g.13981C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.523C>G MANE Select ENSP00000180166.5:p.Pro175Ala
ENST00000180166.5:c.523C>G ENSP00000180166.5:p.Pro175Ala
ENST00000519941.1:c.227C>G
NM_019851.2:c.523C>G NP_062825.1:p.Pro175Ala
NM_019851.3:c.523C>G MANE Select NP_062825.1:p.Pro175Ala
Search 100 bp 5'
Search 100 bp 3'