Canonical Allele Identifier: CA185200385

Gene:

Linked Data

• dbSNP Id: rs1001771060
• gnomAD v2: 8-123407993-G-T
• MyVariant Identifiers: chr8:g.123407993G>T (hg19) ; chr8:g.122395754G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.122395754G>T , CM000670.2:g.122395754G>T	GRCh38
NC_000008.10:g.123407993G>T , CM000670.1:g.123407993G>T	GRCh37
NC_000008.9:g.123477174G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928599.1:n.152+3418C>A
XR_928599.3:n.152+3418C>A