Canonical Allele Identifier: CA4815399
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1448520
ClinVar RCV Id: RCV002012175
dbSNP Id: rs764553577
ExAC: 8:97157302 C / T
gnomAD v2: 8-97157302-C-T
gnomAD v3: 8-96145074-C-T
gnomAD v4: 8-96145074-C-T
COSMIC: COSM2792069
MyVariant Identifiers: chr8:g.97157302C>T (hg19) chr8:g.96145074C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145074C>T , CM000670.2:g.96145074C>T GRCh38
NC_000008.10:g.97157302C>T , CM000670.1:g.97157302C>T GRCh37
NC_000008.9:g.97226478C>T NCBI36
NG_008981.1:g.20719G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.857G>A MANE Select ENSP00000287020.4:p.Arg286His
ENST00000287020.6:c.857G>A ENSP00000287020.4:p.Arg286His
ENST00000620978.1:c.793+2G>A ENSP00000480170.1:n.793+2G>A
ENST00000621429.1:c.857G>A ENSP00000483711.1:p.Arg286His
NM_001001557.2:c.857G>A NP_001001557.1:p.Arg286His
XM_011517030.1:c.458G>A XP_011515332.1:p.Arg153His
NM_001001557.3:c.857G>A NP_001001557.1:p.Arg286His
NM_001001557.4:c.857G>A MANE Select NP_001001557.1:p.Arg286His
Search 100 bp 5'
Search 100 bp 3'