Canonical Allele Identifier: CA181485038
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1499382
ClinVar RCV Id: RCV002040204
dbSNP Id: rs750809706
gnomAD v4: 8-96145189-G-A
MyVariant Identifiers: chr8:g.97157417G>A (hg19) chr8:g.96145189G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145189G>A , CM000670.2:g.96145189G>A GRCh38
NC_000008.10:g.97157417G>A , CM000670.1:g.97157417G>A GRCh37
NC_000008.9:g.97226593G>A NCBI36
NG_008981.1:g.20604C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.742C>T MANE Select ENSP00000287020.4:p.Arg248Cys
ENST00000287020.6:c.742C>T ENSP00000287020.4:p.Arg248Cys
ENST00000620978.1:c.707-27C>T ENSP00000480170.1:n.707-27C>T
ENST00000621429.1:c.742C>T ENSP00000483711.1:p.Arg248Cys
NM_001001557.2:c.742C>T NP_001001557.1:p.Arg248Cys
XM_011517030.1:c.343C>T XP_011515332.1:p.Arg115Cys
NM_001001557.3:c.742C>T NP_001001557.1:p.Arg248Cys
NM_001001557.4:c.742C>T MANE Select NP_001001557.1:p.Arg248Cys
Search 100 bp 5'
Search 100 bp 3'