Canonical Allele Identifier: CA10639145
Gene: FGF9 HGNC NCBI

Linked Data

ClinVar Variation Id: 311439
ClinVar RCV Id: RCV000407081
dbSNP Id: rs17070736
gnomAD v2: 13-22275892-G-A
gnomAD v3: 13-21701753-G-A
gnomAD v4: 13-21701753-G-A
MyVariant Identifiers: chr13:g.22275892G>A (hg19) chr13:g.21701753G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.21701753G>A , CM000675.2:g.21701753G>A GRCh38
NC_000013.10:g.22275892G>A , CM000675.1:g.22275892G>A GRCh37
NC_000013.9:g.21173892G>A NCBI36
NG_016272.1:g.35678G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382353.6:c.*318G>A MANE Select ENSP00000371790.5:n.*318G>A
ENST00000382353.5:c.*318G>A ENSP00000371790.5:n.*318G>A
ENST00000478546.1:n.705G>A
NM_002010.2:c.*318G>A NP_002001.1:n.*318G>A
XM_011534996.1:c.*318G>A XP_011533298.1:n.*318G>A
XM_011534996.2:c.*318G>A XP_011533298.1:n.*318G>A
NM_002010.3:c.*318G>A MANE Select NP_002001.1:n.*318G>A
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