Canonical Allele Identifier: CA370394427
Gene: FGF20 HGNC NCBI

Linked Data

dbSNP Id: rs1563231775
gnomAD v4: 8-16993205-G-A
MyVariant Identifiers: chr8:g.16850714G>A (hg19) chr8:g.16993205G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16993205G>A , CM000670.2:g.16993205G>A GRCh38
NC_000008.10:g.16850714G>A , CM000670.1:g.16850714G>A GRCh37
NC_000008.9:g.16895085G>A NCBI36
NG_015978.1:g.13961C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.503C>T MANE Select ENSP00000180166.5:p.Ala168Val
ENST00000180166.5:c.503C>T ENSP00000180166.5:p.Ala168Val
ENST00000519941.1:c.207C>T
NM_019851.2:c.503C>T NP_062825.1:p.Ala168Val
NM_019851.3:c.503C>T MANE Select NP_062825.1:p.Ala168Val
Search 100 bp 5'
Search 100 bp 3'