Canonical Allele Identifier: CA31701748

Gene:

Linked Data

• dbSNP Id: rs1041518500
• gnomAD v3: 1-168649254-C-A
• gnomAD v4: 1-168649254-C-A
• MyVariant Identifiers: chr1:g.168618492C>A (hg19) ; chr1:g.168649254C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168649254C>A , CM000663.2:g.168649254C>A	GRCh38
NC_000001.10:g.168618492C>A , CM000663.1:g.168618492C>A	GRCh37
NC_000001.9:g.166885116C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922259.1:n.201-7979G>T
XR_922259.2:n.332-7979G>T