Canonical Allele Identifier: CA527707638

Gene:

Linked Data

• dbSNP Id: rs1300423409
• gnomAD v2: 1-193090945-T-A
• gnomAD v3: 1-193121815-T-A
• gnomAD v4: 1-193121815-T-A
• COSMIC: COSN16857047
• MyVariant Identifiers: chr1:g.193090945T>A (hg19) ; chr1:g.193121815T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121815T>A , CM000663.2:g.193121815T>A	GRCh38
NC_000001.10:g.193090945T>A , CM000663.1:g.193090945T>A	GRCh37
NC_000001.9:g.191357568T>A	NCBI36
NG_012691.1:g.4858T>A , LRG_507:g.4858T>A

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1842A>T