Canonical Allele Identifier: CA856573973

Gene:

Linked Data

• dbSNP Id: rs1433664268
• gnomAD v3: 8-88981117-G-C
• gnomAD v4: 8-88981117-G-C
• MyVariant Identifiers: chr8:g.89993346G>C (hg19) ; chr8:g.88981117G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.88981117G>C , CM000670.2:g.88981117G>C	GRCh38
NC_000008.10:g.89993346G>C , CM000670.1:g.89993346G>C	GRCh37
NC_000008.9:g.90062462G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_002956667.1:n.179-99056C>G