Canonical Allele Identifier: CA890857190

Gene:

Linked Data

• dbSNP Id: rs1347604846
• gnomAD v3: 1-168649283-G-A
• gnomAD v4: 1-168649283-G-A
• MyVariant Identifiers: chr1:g.168618521G>A (hg19) ; chr1:g.168649283G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168649283G>A , CM000663.2:g.168649283G>A	GRCh38
NC_000001.10:g.168618521G>A , CM000663.1:g.168618521G>A	GRCh37
NC_000001.9:g.166885145G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922259.1:n.201-8008C>T
XR_922259.2:n.332-8008C>T