Canonical Allele Identifier: CA371751656
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 954246
ClinVar RCV Id: RCV001226673
dbSNP Id: rs1303995573
gnomAD v4: 8-96145075-G-A
COSMIC: COSM4686723
MyVariant Identifiers: chr8:g.97157303G>A (hg19) chr8:g.96145075G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145075G>A , CM000670.2:g.96145075G>A GRCh38
NC_000008.10:g.97157303G>A , CM000670.1:g.97157303G>A GRCh37
NC_000008.9:g.97226479G>A NCBI36
NG_008981.1:g.20718C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.856C>T MANE Select ENSP00000287020.4:p.Arg286Cys
ENST00000287020.6:c.856C>T ENSP00000287020.4:p.Arg286Cys
ENST00000620978.1:c.793+1C>T ENSP00000480170.1:n.793+1C>T
ENST00000621429.1:c.856C>T ENSP00000483711.1:p.Arg286Cys
NM_001001557.2:c.856C>T NP_001001557.1:p.Arg286Cys
XM_011517030.1:c.457C>T XP_011515332.1:p.Arg153Cys
NM_001001557.3:c.856C>T NP_001001557.1:p.Arg286Cys
NM_001001557.4:c.856C>T MANE Select NP_001001557.1:p.Arg286Cys
Search 100 bp 5'
Search 100 bp 3'