Canonical Allele Identifier: CA4815480

Gene: GDF6

Linked Data

• ClinVar Variation Id: 256848
• ClinVar RCV Id: RCV000252001 ; RCV001651141
• dbSNP Id: rs62516290
• ExAC: 8:97172487 G / T
• gnomAD v2: 8-97172487-G-T
• gnomAD v3: 8-96160259-G-T
• gnomAD v4: 8-96160259-G-T
• MyVariant Identifiers: chr8:g.97172487G>T (hg19) ; chr8:g.96160259G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96160259G>T , CM000670.2:g.96160259G>T	GRCh38
NC_000008.10:g.97172487G>T , CM000670.1:g.97172487G>T	GRCh37
NC_000008.9:g.97241663G>T	NCBI36
NG_008981.1:g.5534C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.406+28C>A MANE Select	ENSP00000287020.4:n.406+28C>A
ENST00000287020.6:c.406+28C>A	ENSP00000287020.4:n.406+28C>A
ENST00000620978.1:c.406+28C>A	ENSP00000480170.1:n.406+28C>A
ENST00000621429.1:c.406+28C>A	ENSP00000483711.1:n.406+28C>A
NM_001001557.2:c.406+28C>A	NP_001001557.1:n.406+28C>A
NM_001001557.3:c.406+28C>A	NP_001001557.1:n.406+28C>A
NM_001001557.4:c.406+28C>A MANE Select	NP_001001557.1:n.406+28C>A