Canonical Allele Identifier: CA185200432

Gene:

Linked Data

• dbSNP Id: rs1030210941
• gnomAD v3: 8-122396100-C-T
• gnomAD v4: 8-122396100-C-T
• MyVariant Identifiers: chr8:g.123408339C>T (hg19) ; chr8:g.122396100C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.122396100C>T , CM000670.2:g.122396100C>T	GRCh38
NC_000008.10:g.123408339C>T , CM000670.1:g.123408339C>T	GRCh37
NC_000008.9:g.123477520C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928599.1:n.152+3072G>A
XR_928599.3:n.152+3072G>A