Canonical Allele Identifier: CA4815342

Gene: GDF6

Linked Data

• ClinVar Variation Id: 364042
• ClinVar RCV Id: RCV001027714 ; RCV001044903
• dbSNP Id: rs140782427
• ExAC: 8:97156855 G / A
• gnomAD v2: 8-97156855-G-A
• gnomAD v3: 8-96144627-G-A
• gnomAD v4: 8-96144627-G-A
• COSMIC: COSM1132661
• MyVariant Identifiers: chr8:g.97156855G>A (hg19) ; chr8:g.96144627G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96144627G>A , CM000670.2:g.96144627G>A	GRCh38
NC_000008.10:g.97156855G>A , CM000670.1:g.97156855G>A	GRCh37
NC_000008.9:g.97226031G>A	NCBI36
NG_008981.1:g.21166C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.1304C>T MANE Select	ENSP00000287020.4:p.Ala435Val
ENST00000287020.6:c.1304C>T	ENSP00000287020.4:p.Ala435Val
ENST00000620978.1:c.*28C>T	ENSP00000480170.1:n.*28C>T
ENST00000621429.1:c.1053C>T	ENSP00000483711.1:p.Arg351=
NM_001001557.2:c.1304C>T	NP_001001557.1:p.Ala435Val
XM_011517030.1:c.905C>T	XP_011515332.1:p.Ala302Val
NM_001001557.3:c.1304C>T	NP_001001557.1:p.Ala435Val
NM_001001557.4:c.1304C>T MANE Select	NP_001001557.1:p.Ala435Val