Canonical Allele Identifier: CA119556

Gene: GDF6

Linked Data

• ClinVar Variation Id: 8372
• ClinVar RCV Id: RCV000008878 ; RCV000255695 ; RCV001399723 ; RCV003952350
• dbSNP Id: rs63751220
• ExAC: 8:97157293 A / G
• gnomAD v2: 8-97157293-A-G
• gnomAD v3: 8-96145065-A-G
• gnomAD v4: 8-96145065-A-G
• MyVariant Identifiers: chr8:g.97157293A>G (hg19) ; chr8:g.96145065A>G (hg38)
• PubMed: PMID:18425797

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145065A>G , CM000670.2:g.96145065A>G	GRCh38
NC_000008.10:g.97157293A>G , CM000670.1:g.97157293A>G	GRCh37
NC_000008.9:g.97226469A>G	NCBI36
NG_008981.1:g.20728T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.866T>C MANE Select	ENSP00000287020.4:p.Leu289Pro
ENST00000287020.6:c.866T>C	ENSP00000287020.4:p.Leu289Pro
ENST00000620978.1:c.793+11T>C	ENSP00000480170.1:n.793+11T>C
ENST00000621429.1:c.866T>C	ENSP00000483711.1:p.Leu289Pro
NM_001001557.2:c.866T>C	NP_001001557.1:p.Leu289Pro
XM_011517030.1:c.467T>C	XP_011515332.1:p.Leu156Pro
NM_001001557.3:c.866T>C	NP_001001557.1:p.Leu289Pro
NM_001001557.4:c.866T>C MANE Select	NP_001001557.1:p.Leu289Pro