Canonical Allele Identifier: CA4641549
Gene: FGF20 HGNC NCBI

Linked Data

ClinVar Variation Id: 784125
ClinVar RCV Id: RCV000965770
dbSNP Id: rs17550360
ExAC: 8:16850601 C / T
gnomAD v2: 8-16850601-C-T
gnomAD v3: 8-16993092-C-T
gnomAD v4: 8-16993092-C-T
MyVariant Identifiers: chr8:g.16850601C>T (hg19) chr8:g.16993092C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16993092C>T , CM000670.2:g.16993092C>T GRCh38
NC_000008.10:g.16850601C>T , CM000670.1:g.16850601C>T GRCh37
NC_000008.9:g.16894972C>T NCBI36
NG_015978.1:g.14074G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.616G>A MANE Select ENSP00000180166.5:p.Asp206Asn
ENST00000180166.5:c.616G>A ENSP00000180166.5:p.Asp206Asn
ENST00000519941.1:c.320G>A
NM_019851.2:c.616G>A NP_062825.1:p.Asp206Asn
NM_019851.3:c.616G>A MANE Select NP_062825.1:p.Asp206Asn
Search 100 bp 5'
Search 100 bp 3'