Canonical Allele Identifier: CA370394265
Gene: FGF20 HGNC NCBI

Linked Data

dbSNP Id: rs764646776
gnomAD v2: 8-16850636-G-T
gnomAD v4: 8-16993127-G-T
COSMIC: COSM1252411
MyVariant Identifiers: chr8:g.16850636G>T (hg19) chr8:g.16993127G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16993127G>T , CM000670.2:g.16993127G>T GRCh38
NC_000008.10:g.16850636G>T , CM000670.1:g.16850636G>T GRCh37
NC_000008.9:g.16895007G>T NCBI36
NG_015978.1:g.14039C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.581C>A MANE Select ENSP00000180166.5:p.Pro194Gln
ENST00000180166.5:c.581C>A ENSP00000180166.5:p.Pro194Gln
ENST00000519941.1:c.285C>A
NM_019851.2:c.581C>A NP_062825.1:p.Pro194Gln
NM_019851.3:c.581C>A MANE Select NP_062825.1:p.Pro194Gln
Search 100 bp 5'
Search 100 bp 3'