Canonical Allele Identifier: CA371752022
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1574444
ClinVar RCV Id: RCV002080694
dbSNP Id: rs1036909955
gnomAD v2: 8-97157450-A-G
gnomAD v3: 8-96145222-A-G
gnomAD v4: 8-96145222-A-G
MyVariant Identifiers: chr8:g.97157450A>G (hg19) chr8:g.96145222A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145222A>G , CM000670.2:g.96145222A>G GRCh38
NC_000008.10:g.97157450A>G , CM000670.1:g.97157450A>G GRCh37
NC_000008.9:g.97226626A>G NCBI36
NG_008981.1:g.20571T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.709T>C MANE Select ENSP00000287020.4:p.Trp237Arg
ENST00000287020.6:c.709T>C ENSP00000287020.4:p.Trp237Arg
ENST00000620978.1:c.706+3T>C ENSP00000480170.1:n.706+3T>C
ENST00000621429.1:c.709T>C ENSP00000483711.1:p.Trp237Arg
NM_001001557.2:c.709T>C NP_001001557.1:p.Trp237Arg
XM_011517030.1:c.310T>C XP_011515332.1:p.Trp104Arg
NM_001001557.3:c.709T>C NP_001001557.1:p.Trp237Arg
NM_001001557.4:c.709T>C MANE Select NP_001001557.1:p.Trp237Arg
Search 100 bp 5'
Search 100 bp 3'