Canonical Allele Identifier: CA4641567

Gene: FGF20

Linked Data

• dbSNP Id: rs376046538
• ExAC: 8:16850682 C / T
• gnomAD v2: 8-16850682-C-T
• gnomAD v3: 8-16993173-C-T
• gnomAD v4: 8-16993173-C-T
• MyVariant Identifiers: chr8:g.16850682C>T (hg19) ; chr8:g.16993173C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000180166.6:c.535G>A MANE Select	ENSP00000180166.5:p.Ala179Thr
ENST00000180166.5:c.535G>A	ENSP00000180166.5:p.Ala179Thr
ENST00000519941.1:c.239G>A
NM_019851.2:c.535G>A	NP_062825.1:p.Ala179Thr
NM_019851.3:c.535G>A MANE Select	NP_062825.1:p.Ala179Thr