Canonical Allele Identifier: CA4815419
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 364049
ClinVar RCV Id: RCV000300187
dbSNP Id: rs563560538
ExAC: 8:97157418 C / T
gnomAD v2: 8-97157418-C-T
gnomAD v3: 8-96145190-C-T
gnomAD v4: 8-96145190-C-T
MyVariant Identifiers: chr8:g.97157418C>T (hg19) chr8:g.96145190C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145190C>T , CM000670.2:g.96145190C>T GRCh38
NC_000008.10:g.97157418C>T , CM000670.1:g.97157418C>T GRCh37
NC_000008.9:g.97226594C>T NCBI36
NG_008981.1:g.20603G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000287020.7:c.741G>A MANE Select ENSP00000287020.4:p.Ala247=
ENST00000287020.6:c.741G>A ENSP00000287020.4:p.Ala247=
ENST00000620978.1:c.707-28G>A ENSP00000480170.1:n.707-28G>A
ENST00000621429.1:c.741G>A ENSP00000483711.1:p.Ala247=
NM_001001557.2:c.741G>A NP_001001557.1:p.Ala247=
XM_011517030.1:c.342G>A XP_011515332.1:p.Ala114=
NM_001001557.3:c.741G>A NP_001001557.1:p.Ala247=
NM_001001557.4:c.741G>A MANE Select NP_001001557.1:p.Ala247=
Search 100 bp 5'
Search 100 bp 3'