Canonical Allele Identifier: CA658653777

Gene:

Linked Data

• ClinVar Variation Id: 446240
• ClinVar RCV Id: RCV000515497 ; RCV001268365
• dbSNP Id: rs1554264613
• gnomAD v3: 6-99593111-G-C
• gnomAD v4: 6-99593111-G-C
• MyVariant Identifiers: chr6:g.100040987G>C (hg19) ; chr6:g.99593111G>C (hg38)
• PubMed: PMID:9238090 ; PMID:9924305 ; PMID:26507665 ; PMID:28790370

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.99593111G>C , CM000668.2:g.99593111G>C	GRCh38
NC_000006.11:g.100040987G>C , CM000668.1:g.100040987G>C	GRCh37
NC_000006.10:g.100147708G>C	NCBI36