Canonical Allele Identifier: CA4815517

Gene: GDF6

Linked Data

• ClinVar Variation Id: 256847
• ClinVar RCV Id: RCV000247047 ; RCV000324689 ; RCV000647352 ; RCV002494717
• dbSNP Id: rs112296824
• ExAC: 8:97172666 C / A
• gnomAD v2: 8-97172666-C-A
• gnomAD v3: 8-96160438-C-A
• gnomAD v4: 8-96160438-C-A
• MyVariant Identifiers: chr8:g.97172666C>A (hg19) ; chr8:g.96160438C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96160438C>A , CM000670.2:g.96160438C>A	GRCh38
NC_000008.10:g.97172666C>A , CM000670.1:g.97172666C>A	GRCh37
NC_000008.9:g.97241842C>A	NCBI36
NG_008981.1:g.5355G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000287020.7:c.255G>T MANE Select	ENSP00000287020.4:p.Pro85=
ENST00000287020.6:c.255G>T	ENSP00000287020.4:p.Pro85=
ENST00000620978.1:c.255G>T	ENSP00000480170.1:p.Pro85=
ENST00000621429.1:c.255G>T	ENSP00000483711.1:p.Pro85=
NM_001001557.2:c.255G>T	NP_001001557.1:p.Pro85=
NM_001001557.3:c.255G>T	NP_001001557.1:p.Pro85=
NM_001001557.4:c.255G>T MANE Select	NP_001001557.1:p.Pro85=