Canonical Allele Identifier: CA4641560
Gene: FGF20 HGNC NCBI

Linked Data

dbSNP Id: rs556236317
gnomAD v2: 8-16850662-C-G
gnomAD v4: 8-16993153-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16993153C>G , CM000670.2:g.16993153C>G GRCh38
NC_000008.10:g.16850662C>G , CM000670.1:g.16850662C>G GRCh37
NC_000008.9:g.16895033C>G NCBI36
NG_015978.1:g.14013G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.555G>C MANE Select ENSP00000180166.5:p.Gln185His
ENST00000180166.5:c.555G>C ENSP00000180166.5:p.Gln185His
ENST00000519941.1:c.259G>C
NM_019851.2:c.555G>C NP_062825.1:p.Gln185His
NM_019851.3:c.555G>C MANE Select NP_062825.1:p.Gln185His