Canonical Allele Identifier: CA119558

Gene: GDF6

Linked Data

• ClinVar Variation Id: 8374
• ClinVar RCV Id: RCV000008880 ; RCV001486135
• dbSNP Id: rs121909354
• ExAC: 8:97172796 C / A
• gnomAD v2: 8-97172796-C-A
• gnomAD v3: 8-96160568-C-A
• gnomAD v4: 8-96160568-C-A
• MyVariant Identifiers: chr8:g.97172796C>A (hg19) ; chr8:g.96160568C>A (hg38)
• PubMed: PMID:19129173

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96160568C>A , CM000670.2:g.96160568C>A	GRCh38
NC_000008.10:g.97172796C>A , CM000670.1:g.97172796C>A	GRCh37
NC_000008.9:g.97241972C>A	NCBI36
NG_008981.1:g.5225G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000287020.7:c.125G>T MANE Select	ENSP00000287020.4:p.Gly42Val
ENST00000287020.6:c.125G>T	ENSP00000287020.4:p.Gly42Val
ENST00000620978.1:c.125G>T	ENSP00000480170.1:p.Gly42Val
ENST00000621429.1:c.125G>T	ENSP00000483711.1:p.Gly42Val
NM_001001557.2:c.125G>T	NP_001001557.1:p.Gly42Val
NM_001001557.3:c.125G>T	NP_001001557.1:p.Gly42Val
NM_001001557.4:c.125G>T MANE Select	NP_001001557.1:p.Gly42Val