Canonical Allele Identifier: CA171827738

Gene:

Linked Data

• dbSNP Id: rs1461729
• gnomAD v2: 8-9187242-A-G
• gnomAD v3: 8-9329732-A-G
• gnomAD v4: 8-9329732-A-G
• MyVariant Identifiers: chr8:g.9187242A>G (hg19) ; chr8:g.9329732A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.9329732A>G , CM000670.2:g.9329732A>G	GRCh38
NC_000008.10:g.9187242A>G , CM000670.1:g.9187242A>G	GRCh37
NC_000008.9:g.9224652A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_040039.1:n.766-2672A>G