Canonical Allele Identifier: CA232714

Gene:

Linked Data

• ClinVar Variation Id: 140507
• ClinVar RCV Id: RCV000128717
• dbSNP Id: rs11811211
• gnomAD v2: 1-40723422-C-G
• gnomAD v3: 1-40257750-C-G
• gnomAD v4: 1-40257750-C-G
• MyVariant Identifiers: chr1:g.40723422C>G (hg19) ; chr1:g.40723422_40723426delinsGTCAG (hg19) ; chr1:g.40257750C>G (hg38) ; chr1:g.40257750_40257754delinsGTCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40257750C>G , CM000663.2:g.40257750C>G	GRCh38
NC_000001.10:g.40723422C>G , CM000663.1:g.40723422C>G	GRCh37
NC_000001.9:g.40496009C>G	NCBI36
NG_008695.1:g.4690C>G , LRG_212:g.4690C>G