Canonical Allele Identifier: CA4641568
Gene: FGF20 HGNC NCBI

Linked Data

ClinVar Variation Id: 2697660
ClinVar RCV Id: RCV003549396
dbSNP Id: rs376046538
ExAC: 8:16850682 C / A
gnomAD v2: 8-16850682-C-A
gnomAD v3: 8-16993173-C-A
gnomAD v4: 8-16993173-C-A
MyVariant Identifiers: chr8:g.16850682C>A (hg19) chr8:g.16993173C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16993173C>A , CM000670.2:g.16993173C>A GRCh38
NC_000008.10:g.16850682C>A , CM000670.1:g.16850682C>A GRCh37
NC_000008.9:g.16895053C>A NCBI36
NG_015978.1:g.13993G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.535G>T MANE Select ENSP00000180166.5:p.Ala179Ser
ENST00000180166.5:c.535G>T ENSP00000180166.5:p.Ala179Ser
ENST00000519941.1:c.239G>T
NM_019851.2:c.535G>T NP_062825.1:p.Ala179Ser
NM_019851.3:c.535G>T MANE Select NP_062825.1:p.Ala179Ser
Search 100 bp 5'
Search 100 bp 3'