Canonical Allele Identifier: CA10628451

Gene: GDF6

Linked Data

• ClinVar Variation Id: 364013
• ClinVar RCV Id: RCV000363253
• dbSNP Id: rs80085212
• gnomAD v2: 8-97155701-C-G
• gnomAD v3: 8-96143473-C-G
• gnomAD v4: 8-96143473-C-G
• MyVariant Identifiers: chr8:g.97155701C>G (hg19) ; chr8:g.96143473C>G (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96143473C>G , CM000670.2:g.96143473C>G	GRCh38
NC_000008.10:g.97155701C>G , CM000670.1:g.97155701C>G	GRCh37
NC_000008.9:g.97224877C>G	NCBI36
NG_008981.1:g.22320G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.*1090G>C MANE Select	ENSP00000287020.4:n.*1090G>C
ENST00000287020.6:c.*1090G>C	ENSP00000287020.4:n.*1090G>C
NM_001001557.2:c.*1090G>C	NP_001001557.1:n.*1090G>C
XM_011517030.1:c.*1090G>C	XP_011515332.1:n.*1090G>C
NM_001001557.3:c.*1090G>C	NP_001001557.1:n.*1090G>C
NM_001001557.4:c.*1090G>C MANE Select	NP_001001557.1:n.*1090G>C