Canonical Allele Identifier: CA4815493
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 364051
ClinVar RCV Id: RCV000264823 RCV000878422
dbSNP Id: rs140579014
ExAC: 8:97172565 T / C
gnomAD v2: 8-97172565-T-C
gnomAD v3: 8-96160337-T-C
gnomAD v4: 8-96160337-T-C
MyVariant Identifiers: chr8:g.97172565T>C (hg19) chr8:g.96160337T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160337T>C , CM000670.2:g.96160337T>C GRCh38
NC_000008.10:g.97172565T>C , CM000670.1:g.97172565T>C GRCh37
NC_000008.9:g.97241741T>C NCBI36
NG_008981.1:g.5456A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.356A>G MANE Select ENSP00000287020.4:p.Gln119Arg
ENST00000287020.6:c.356A>G ENSP00000287020.4:p.Gln119Arg
ENST00000620978.1:c.356A>G ENSP00000480170.1:p.Gln119Arg
ENST00000621429.1:c.356A>G ENSP00000483711.1:p.Gln119Arg
NM_001001557.2:c.356A>G NP_001001557.1:p.Gln119Arg
NM_001001557.3:c.356A>G NP_001001557.1:p.Gln119Arg
NM_001001557.4:c.356A>G MANE Select NP_001001557.1:p.Gln119Arg
Search 100 bp 5'
Search 100 bp 3'