Canonical Allele Identifier: CA1303188

Gene:

Linked Data

• dbSNP Id: rs778000875
• ExAC: 1:193090895 G / A
• gnomAD v2: 1-193090895-G-A
• gnomAD v3: 1-193121765-G-A
• gnomAD v4: 1-193121765-G-A
• MyVariant Identifiers: chr1:g.193090895G>A (hg19) ; chr1:g.193121765G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121765G>A , CM000663.2:g.193121765G>A	GRCh38
NC_000001.10:g.193090895G>A , CM000663.1:g.193090895G>A	GRCh37
NC_000001.9:g.191357518G>A	NCBI36
NG_012691.1:g.4808G>A , LRG_507:g.4808G>A

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1892C>T