Canonical Allele Identifier: CA583070443

Gene:

Linked Data

• dbSNP Id: rs1290411895
• gnomAD v2: 8-82390623-A-G
• gnomAD v3: 8-81478388-A-G
• gnomAD v4: 8-81478388-A-G
• MyVariant Identifiers: chr8:g.82390623A>G (hg19) ; chr8:g.81478388A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.81478388A>G , CM000670.2:g.81478388A>G	GRCh38
NC_000008.10:g.82390623A>G , CM000670.1:g.82390623A>G	GRCh37
NC_000008.9:g.82553178A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745980.1:n.514+16414A>G