Canonical Allele Identifier: CA10625971
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 364036
ClinVar RCV Id: RCV000374918
dbSNP Id: rs886063206
gnomAD v3: 8-96144314-C-T
gnomAD v4: 8-96144314-C-T
MyVariant Identifiers: chr8:g.97156542C>T (hg19) chr8:g.96144314C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96144314C>T , CM000670.2:g.96144314C>T GRCh38
NC_000008.10:g.97156542C>T , CM000670.1:g.97156542C>T GRCh37
NC_000008.9:g.97225718C>T NCBI36
NG_008981.1:g.21479G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.*249G>A MANE Select ENSP00000287020.4:n.*249G>A
ENST00000287020.6:c.*249G>A ENSP00000287020.4:n.*249G>A
NM_001001557.2:c.*249G>A NP_001001557.1:n.*249G>A
XM_011517030.1:c.*249G>A XP_011515332.1:n.*249G>A
NM_001001557.3:c.*249G>A NP_001001557.1:n.*249G>A
NM_001001557.4:c.*249G>A MANE Select NP_001001557.1:n.*249G>A
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