Canonical Allele Identifier: CA371751943
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2501490
ClinVar RCV Id: RCV003227285
dbSNP Id: rs1461900438
gnomAD v2: 8-97157408-C-T
gnomAD v4: 8-96145180-C-T
MyVariant Identifiers: chr8:g.97157408C>T (hg19) chr8:g.96145180C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145180C>T , CM000670.2:g.96145180C>T GRCh38
NC_000008.10:g.97157408C>T , CM000670.1:g.97157408C>T GRCh37
NC_000008.9:g.97226584C>T NCBI36
NG_008981.1:g.20613G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000287020.7:c.751G>A MANE Select ENSP00000287020.4:p.Gly251Arg
ENST00000287020.6:c.751G>A ENSP00000287020.4:p.Gly251Arg
ENST00000620978.1:c.707-18G>A ENSP00000480170.1:n.707-18G>A
ENST00000621429.1:c.751G>A ENSP00000483711.1:p.Gly251Arg
NM_001001557.2:c.751G>A NP_001001557.1:p.Gly251Arg
XM_011517030.1:c.352G>A XP_011515332.1:p.Gly118Arg
NM_001001557.3:c.751G>A NP_001001557.1:p.Gly251Arg
NM_001001557.4:c.751G>A MANE Select NP_001001557.1:p.Gly251Arg
Search 100 bp 5'
Search 100 bp 3'