Canonical Allele Identifier: CA370394471
Gene: FGF20 HGNC NCBI

Linked Data

dbSNP Id: rs1229326644
gnomAD v2: 8-16850736-T-C
gnomAD v4: 8-16993227-T-C
MyVariant Identifiers: chr8:g.16850736T>C (hg19) chr8:g.16993227T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16993227T>C , CM000670.2:g.16993227T>C GRCh38
NC_000008.10:g.16850736T>C , CM000670.1:g.16850736T>C GRCh37
NC_000008.9:g.16895107T>C NCBI36
NG_015978.1:g.13939A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.481A>G MANE Select ENSP00000180166.5:p.Thr161Ala
ENST00000180166.5:c.481A>G ENSP00000180166.5:p.Thr161Ala
ENST00000519941.1:c.185A>G
NM_019851.2:c.481A>G NP_062825.1:p.Thr161Ala
NM_019851.3:c.481A>G MANE Select NP_062825.1:p.Thr161Ala
Search 100 bp 5'
Search 100 bp 3'