Canonical Allele Identifier: CA4815488

Gene: GDF6

Linked Data

• ClinVar Variation Id: 1008100
• ClinVar RCV Id: RCV001305381 ; RCV004036349
• dbSNP Id: rs536331514
• ExAC: 8:97172544 G / A
• gnomAD v2: 8-97172544-G-A
• gnomAD v3: 8-96160316-G-A
• gnomAD v4: 8-96160316-G-A
• COSMIC: COSM1253161
• MyVariant Identifiers: chr8:g.97172544G>A (hg19) ; chr8:g.96160316G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96160316G>A , CM000670.2:g.96160316G>A	GRCh38
NC_000008.10:g.97172544G>A , CM000670.1:g.97172544G>A	GRCh37
NC_000008.9:g.97241720G>A	NCBI36
NG_008981.1:g.5477C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.377C>T MANE Select	ENSP00000287020.4:p.Thr126Met
ENST00000287020.6:c.377C>T	ENSP00000287020.4:p.Thr126Met
ENST00000620978.1:c.377C>T	ENSP00000480170.1:p.Thr126Met
ENST00000621429.1:c.377C>T	ENSP00000483711.1:p.Thr126Met
NM_001001557.2:c.377C>T	NP_001001557.1:p.Thr126Met
NM_001001557.3:c.377C>T	NP_001001557.1:p.Thr126Met
NM_001001557.4:c.377C>T MANE Select	NP_001001557.1:p.Thr126Met