Canonical Allele Identifier: CA181485042
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2166586
ClinVar RCV Id: RCV003080156
dbSNP Id: rs941023182
gnomAD v2: 8-97157440-A-G
gnomAD v4: 8-96145212-A-G
MyVariant Identifiers: chr8:g.97157440A>G (hg19) chr8:g.96145212A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145212A>G , CM000670.2:g.96145212A>G GRCh38
NC_000008.10:g.97157440A>G , CM000670.1:g.97157440A>G GRCh37
NC_000008.9:g.97226616A>G NCBI36
NG_008981.1:g.20581T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.719T>C MANE Select ENSP00000287020.4:p.Leu240Pro
ENST00000287020.6:c.719T>C ENSP00000287020.4:p.Leu240Pro
ENST00000620978.1:c.706+13T>C ENSP00000480170.1:n.706+13T>C
ENST00000621429.1:c.719T>C ENSP00000483711.1:p.Leu240Pro
NM_001001557.2:c.719T>C NP_001001557.1:p.Leu240Pro
XM_011517030.1:c.320T>C XP_011515332.1:p.Leu107Pro
NM_001001557.3:c.719T>C NP_001001557.1:p.Leu240Pro
NM_001001557.4:c.719T>C MANE Select NP_001001557.1:p.Leu240Pro
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