Canonical Allele Identifier: CA119557

Gene: GDF6

Linked Data

• ClinVar Variation Id: 8373
• ClinVar RCV Id: RCV000008879 ; RCV000287766 ; RCV000984889 ; RCV001429590 ; RCV003152588
• dbSNP Id: rs121909353
• ExAC: 8:97156888 T / C
• gnomAD v2: 8-97156888-T-C
• gnomAD v3: 8-96144660-T-C
• gnomAD v4: 8-96144660-T-C
• MyVariant Identifiers: chr8:g.97156888T>C (hg19) ; chr8:g.96144660T>C (hg38)
• PubMed: PMID:19129173

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96144660T>C , CM000670.2:g.96144660T>C	GRCh38
NC_000008.10:g.97156888T>C , CM000670.1:g.97156888T>C	GRCh37
NC_000008.9:g.97226064T>C	NCBI36
NG_008981.1:g.21133A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.1271A>G MANE Select	ENSP00000287020.4:p.Lys424Arg
ENST00000287020.6:c.1271A>G	ENSP00000287020.4:p.Lys424Arg
ENST00000620978.1:c.811A>G	ENSP00000480170.1:p.Asn271Asp
ENST00000621429.1:c.1020A>G	ENSP00000483711.1:p.Gln340=
NM_001001557.2:c.1271A>G	NP_001001557.1:p.Lys424Arg
XM_011517030.1:c.872A>G	XP_011515332.1:p.Lys291Arg
NM_001001557.3:c.1271A>G	NP_001001557.1:p.Lys424Arg
NM_001001557.4:c.1271A>G MANE Select	NP_001001557.1:p.Lys424Arg