Canonical Allele Identifier: CA6909413

Gene: FGF9

Linked Data

• ClinVar Variation Id: 2959765
• ClinVar RCV Id: RCV003811940
• dbSNP Id: rs145719719
• ExAC: 13:22246141 G / A
• gnomAD v2: 13-22246141-G-A
• gnomAD v3: 13-21672002-G-A
• gnomAD v4: 13-21672002-G-A
• MyVariant Identifiers: chr13:g.22246141G>A (hg19) ; chr13:g.21672002G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.21672002G>A , CM000675.2:g.21672002G>A	GRCh38
NC_000013.10:g.22246141G>A , CM000675.1:g.22246141G>A	GRCh37
NC_000013.9:g.21144141G>A	NCBI36
NG_016272.1:g.5927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382353.6:c.90G>A MANE Select	ENSP00000371790.5:p.Pro30=
ENST00000382353.5:c.90G>A	ENSP00000371790.5:p.Pro30=
NM_002010.2:c.90G>A	NP_002001.1:p.Pro30=
NM_002010.3:c.90G>A MANE Select	NP_002001.1:p.Pro30=