Canonical Allele Identifier: CA4815486

Gene: GDF6

Linked Data

• ClinVar Variation Id: 2125266
• ClinVar RCV Id: RCV003040029 ; RCV003988044
• dbSNP Id: rs780563975
• ExAC: 8:97172522 C / T
• gnomAD v2: 8-97172522-C-T
• gnomAD v3: 8-96160294-C-T
• gnomAD v4: 8-96160294-C-T
• MyVariant Identifiers: chr8:g.97172522C>T (hg19) ; chr8:g.96160294C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96160294C>T , CM000670.2:g.96160294C>T	GRCh38
NC_000008.10:g.97172522C>T , CM000670.1:g.97172522C>T	GRCh37
NC_000008.9:g.97241698C>T	NCBI36
NG_008981.1:g.5499G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.399G>A MANE Select	ENSP00000287020.4:p.Arg133=
ENST00000287020.6:c.399G>A	ENSP00000287020.4:p.Arg133=
ENST00000620978.1:c.399G>A	ENSP00000480170.1:p.Arg133=
ENST00000621429.1:c.399G>A	ENSP00000483711.1:p.Arg133=
NM_001001557.2:c.399G>A	NP_001001557.1:p.Arg133=
NM_001001557.3:c.399G>A	NP_001001557.1:p.Arg133=
NM_001001557.4:c.399G>A MANE Select	NP_001001557.1:p.Arg133=