Canonical Allele Identifier: CA185200405

Gene:

Linked Data

• dbSNP Id: rs377008863
• gnomAD v3: 8-122395863-G-T
• gnomAD v4: 8-122395863-G-T
• MyVariant Identifiers: chr8:g.123408102G>T (hg19) ; chr8:g.122395863G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.122395863G>T , CM000670.2:g.122395863G>T	GRCh38
NC_000008.10:g.123408102G>T , CM000670.1:g.123408102G>T	GRCh37
NC_000008.9:g.123477283G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928599.1:n.152+3309C>A
XR_928599.3:n.152+3309C>A