Canonical Allele Identifier: CA172903286

Gene: FGF20

Linked Data

• dbSNP Id: rs577732279
• gnomAD v2: 8-16849981-C-G
• gnomAD v3: 8-16992472-C-G
• gnomAD v4: 8-16992472-C-G
• MyVariant Identifiers: chr8:g.16849981C>G (hg19) ; chr8:g.16992472C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.16992472C>G , CM000670.2:g.16992472C>G	GRCh38
NC_000008.10:g.16849981C>G , CM000670.1:g.16849981C>G	GRCh37
NC_000008.9:g.16894352C>G	NCBI36
NG_015978.1:g.14694G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000180166.6:c.*600G>C MANE Select	ENSP00000180166.5:n.*600G>C
ENST00000180166.5:c.*600G>C	ENSP00000180166.5:n.*600G>C
NM_019851.3:c.*600G>C MANE Select	NP_062825.1:n.*600G>C