Canonical Allele Identifier: CA371752008
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2049811
ClinVar RCV Id: RCV002914207
dbSNP Id: rs1407352914
gnomAD v2: 8-97157444-C-T
gnomAD v4: 8-96145216-C-T
MyVariant Identifiers: chr8:g.97157444C>T (hg19) chr8:g.96145216C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145216C>T , CM000670.2:g.96145216C>T GRCh38
NC_000008.10:g.97157444C>T , CM000670.1:g.97157444C>T GRCh37
NC_000008.9:g.97226620C>T NCBI36
NG_008981.1:g.20577G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.715G>A MANE Select ENSP00000287020.4:p.Glu239Lys
ENST00000287020.6:c.715G>A ENSP00000287020.4:p.Glu239Lys
ENST00000620978.1:c.706+9G>A ENSP00000480170.1:n.706+9G>A
ENST00000621429.1:c.715G>A ENSP00000483711.1:p.Glu239Lys
NM_001001557.2:c.715G>A NP_001001557.1:p.Glu239Lys
XM_011517030.1:c.316G>A XP_011515332.1:p.Glu106Lys
NM_001001557.3:c.715G>A NP_001001557.1:p.Glu239Lys
NM_001001557.4:c.715G>A MANE Select NP_001001557.1:p.Glu239Lys
Search 100 bp 5'
Search 100 bp 3'