Canonical Allele Identifier: CA4815342
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 364042
dbSNP Id: rs140782427
gnomAD v2: 8-97156855-G-A
gnomAD v3: 8-96144627-G-A
gnomAD v4: 8-96144627-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96144627G>A , CM000670.2:g.96144627G>A GRCh38
NC_000008.10:g.97156855G>A , CM000670.1:g.97156855G>A GRCh37
NC_000008.9:g.97226031G>A NCBI36
NG_008981.1:g.21166C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000287020.7:c.1304C>T MANE Select ENSP00000287020.4:p.Ala435Val
ENST00000287020.6:c.1304C>T ENSP00000287020.4:p.Ala435Val
ENST00000620978.1:c.*28C>T ENSP00000480170.1:n.*28C>T
ENST00000621429.1:c.1053C>T ENSP00000483711.1:p.Arg351=
NM_001001557.2:c.1304C>T NP_001001557.1:p.Ala435Val
XM_011517030.1:c.905C>T XP_011515332.1:p.Ala302Val
NM_001001557.3:c.1304C>T NP_001001557.1:p.Ala435Val
NM_001001557.4:c.1304C>T MANE Select NP_001001557.1:p.Ala435Val