Canonical Allele Identifier: CA185200373

Gene:

Linked Data

• dbSNP Id: rs752571304
• gnomAD v3: 8-122395701-T-C
• gnomAD v4: 8-122395701-T-C
• MyVariant Identifiers: chr8:g.123407940T>C (hg19) ; chr8:g.122395701T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.122395701T>C , CM000670.2:g.122395701T>C	GRCh38
NC_000008.10:g.123407940T>C , CM000670.1:g.123407940T>C	GRCh37
NC_000008.9:g.123477121T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928599.1:n.152+3471A>G
XR_928599.3:n.152+3471A>G