Canonical Allele Identifier: CA129363

Gene: GDF3

Linked Data

• ClinVar Variation Id: 30591
• ClinVar RCV Id: RCV000023556 ; RCV000023555 ; RCV000414875 ; RCV001091141 ; RCV003924856
• dbSNP Id: rs140926412
• ExAC: 12:7842773 G / A
• gnomAD v2: 12-7842773-G-A
• gnomAD v3: 12-7690177-G-A
• gnomAD v4: 12-7690177-G-A
• MyVariant Identifiers: chr12:g.7842773G>A (hg19) ; chr12:g.7690177G>A (hg38)
• PubMed: PMID:19864492

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7690177G>A , CM000674.2:g.7690177G>A	GRCh38
NC_000012.11:g.7842773G>A , CM000674.1:g.7842773G>A	GRCh37
NC_000012.10:g.7734040G>A	NCBI36
NG_028167.1:g.10588C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329913.4:c.796C>T MANE Select	ENSP00000331745.3:p.Arg266Cys
ENST00000329913.3:c.796C>T	ENSP00000331745.3:p.Arg266Cys
NM_020634.1:c.796C>T	NP_065685.1:p.Arg266Cys
NM_020634.2:c.796C>T	NP_065685.1:p.Arg266Cys
NM_020634.3:c.796C>T MANE Select	NP_065685.1:p.Arg266Cys