Canonical Allele Identifier: CA371751688
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2046627
ClinVar RCV Id: RCV002886688
dbSNP Id: rs1305809046
gnomAD v3: 8-96145086-G-C
gnomAD v4: 8-96145086-G-C
MyVariant Identifiers: chr8:g.97157314G>C (hg19) chr8:g.96145086G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145086G>C , CM000670.2:g.96145086G>C GRCh38
NC_000008.10:g.97157314G>C , CM000670.1:g.97157314G>C GRCh37
NC_000008.9:g.97226490G>C NCBI36
NG_008981.1:g.20707C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.845C>G MANE Select ENSP00000287020.4:p.Thr282Ser
ENST00000287020.6:c.845C>G ENSP00000287020.4:p.Thr282Ser
ENST00000620978.1:c.783C>G ENSP00000480170.1:p.His261Gln
ENST00000621429.1:c.845C>G ENSP00000483711.1:p.Thr282Ser
NM_001001557.2:c.845C>G NP_001001557.1:p.Thr282Ser
XM_011517030.1:c.446C>G XP_011515332.1:p.Thr149Ser
NM_001001557.3:c.845C>G NP_001001557.1:p.Thr282Ser
NM_001001557.4:c.845C>G MANE Select NP_001001557.1:p.Thr282Ser
Search 100 bp 5'
Search 100 bp 3'