Canonical Allele Identifier: CA526771945

Gene:

Linked Data

• dbSNP Id: rs1041424389
• gnomAD v2: 1-168618729-A-C
• gnomAD v3: 1-168649491-A-C
• gnomAD v4: 1-168649491-A-C
• MyVariant Identifiers: chr1:g.168618729A>C (hg19) ; chr1:g.168649491A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168649491A>C , CM000663.2:g.168649491A>C	GRCh38
NC_000001.10:g.168618729A>C , CM000663.1:g.168618729A>C	GRCh37
NC_000001.9:g.166885353A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922259.1:n.201-8216T>G
XR_922259.2:n.332-8216T>G