Canonical Allele Identifier: CA4815415
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2079940
ClinVar RCV Id: RCV002998905
dbSNP Id: rs764642726
ExAC: 8:97157410 C / G
gnomAD v2: 8-97157410-C-G
gnomAD v4: 8-96145182-C-G
MyVariant Identifiers: chr8:g.97157410C>G (hg19) chr8:g.96145182C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145182C>G , CM000670.2:g.96145182C>G GRCh38
NC_000008.10:g.97157410C>G , CM000670.1:g.97157410C>G GRCh37
NC_000008.9:g.97226586C>G NCBI36
NG_008981.1:g.20611G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000287020.7:c.749G>C MANE Select ENSP00000287020.4:p.Arg250Pro
ENST00000287020.6:c.749G>C ENSP00000287020.4:p.Arg250Pro
ENST00000620978.1:c.707-20G>C ENSP00000480170.1:n.707-20G>C
ENST00000621429.1:c.749G>C ENSP00000483711.1:p.Arg250Pro
NM_001001557.2:c.749G>C NP_001001557.1:p.Arg250Pro
XM_011517030.1:c.350G>C XP_011515332.1:p.Arg117Pro
NM_001001557.3:c.749G>C NP_001001557.1:p.Arg250Pro
NM_001001557.4:c.749G>C MANE Select NP_001001557.1:p.Arg250Pro
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