Canonical Allele Identifier: CA180418731

Gene:

Linked Data

• dbSNP Id: rs773214573
• gnomAD v2: 8-80103414-C-A
• gnomAD v3: 8-79191179-C-A
• gnomAD v4: 8-79191179-C-A
• MyVariant Identifiers: chr8:g.80103414C>A (hg19) ; chr8:g.79191179C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.79191179C>A , CM000670.2:g.79191179C>A	GRCh38
NC_000008.10:g.80103414C>A , CM000670.1:g.80103414C>A	GRCh37
NC_000008.9:g.80265969C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001745720.1:n.105+808C>A