Canonical Allele Identifier: CA4630575

Gene:

Linked Data

• ClinVar Variation Id: 1290380
• ClinVar RCV Id: RCV001715187
• dbSNP Id: rs7843987
• ExAC: 8:11422130 T / C
• gnomAD v2: 8-11422130-T-C
• gnomAD v3: 8-11564621-T-C
• gnomAD v4: 8-11564621-T-C
• MyVariant Identifiers: chr8:g.11422130T>C (hg19) ; chr8:g.11564621T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564621T>C , CM000670.2:g.11564621T>C	GRCh38
NC_000008.10:g.11422130T>C , CM000670.1:g.11422130T>C	GRCh37
NC_000008.9:g.11459539T>C	NCBI36
NG_023543.1:g.75610T>C
NG_023543.2:g.75610T>C