Canonical Allele Identifier: CA12733156
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 681299
ClinVar RCV Id: RCV000841159
dbSNP Id: rs2466129
gnomAD v2: 8-97172403-A-G
gnomAD v3: 8-96160175-A-G
gnomAD v4: 8-96160175-A-G
MyVariant Identifiers: chr8:g.97172403A>G (hg19) chr8:g.96160175A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160175A>G , CM000670.2:g.96160175A>G GRCh38
NC_000008.10:g.97172403A>G , CM000670.1:g.97172403A>G GRCh37
NC_000008.9:g.97241579A>G NCBI36
NG_008981.1:g.5618T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.406+112T>C MANE Select ENSP00000287020.4:n.406+112T>C
ENST00000287020.6:c.406+112T>C ENSP00000287020.4:n.406+112T>C
ENST00000620978.1:c.406+112T>C ENSP00000480170.1:n.406+112T>C
ENST00000621429.1:c.406+112T>C ENSP00000483711.1:n.406+112T>C
NM_001001557.2:c.406+112T>C NP_001001557.1:n.406+112T>C
NM_001001557.3:c.406+112T>C NP_001001557.1:n.406+112T>C
NM_001001557.4:c.406+112T>C MANE Select NP_001001557.1:n.406+112T>C
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