Canonical Allele Identifier: CA10625948

Gene: GDF6

Linked Data

• ClinVar Variation Id: 364008
• ClinVar RCV Id: RCV000393340
• dbSNP Id: rs141085775
• gnomAD v2: 8-97154621-T-G
• gnomAD v3: 8-96142393-T-G
• gnomAD v4: 8-96142393-T-G
• MyVariant Identifiers: chr8:g.97154621T>G (hg19) ; chr8:g.96142393T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96142393T>G , CM000670.2:g.96142393T>G	GRCh38
NC_000008.10:g.97154621T>G , CM000670.1:g.97154621T>G	GRCh37
NC_000008.9:g.97223797T>G	NCBI36
NG_008981.1:g.23400A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.*2170A>C MANE Select	ENSP00000287020.4:n.*2170A>C
ENST00000287020.6:c.*2170A>C	ENSP00000287020.4:n.*2170A>C
NM_001001557.2:c.*2170A>C	NP_001001557.1:n.*2170A>C
XM_011517030.1:c.*2170A>C	XP_011515332.1:n.*2170A>C
NM_001001557.3:c.*2170A>C	NP_001001557.1:n.*2170A>C
NM_001001557.4:c.*2170A>C MANE Select	NP_001001557.1:n.*2170A>C