Canonical Allele Identifier: CA33654449

Gene:

Linked Data

• ClinVar Variation Id: 1212678
• ClinVar RCV Id: RCV001586325
• dbSNP Id: rs542360647
• gnomAD v2: 1-179545195-G-C
• gnomAD v3: 1-179576060-G-C
• gnomAD v4: 1-179576060-G-C
• MyVariant Identifiers: chr1:g.179545195G>C (hg19) ; chr1:g.179545195_179545203delinsCGTGGAGCT (hg19) ; chr1:g.179576060G>C (hg38) ; chr1:g.179576060_179576068delinsCGTGGAGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179576060G>C , CM000663.2:g.179576060G>C	GRCh38
NC_000001.10:g.179545195G>C , CM000663.1:g.179545195G>C	GRCh37
NC_000001.9:g.177811818G>C	NCBI36
NG_007535.1:g.4890C>G , LRG_887:g.4890C>G