Canonical Allele Identifier: CA527707626

Gene:

Linked Data

• dbSNP Id: rs1454485164
• gnomAD v2: 1-193090925-C-A
• gnomAD v3: 1-193121795-C-A
• gnomAD v4: 1-193121795-C-A
• MyVariant Identifiers: chr1:g.193090925C>A (hg19) ; chr1:g.193121795C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121795C>A , CM000663.2:g.193121795C>A	GRCh38
NC_000001.10:g.193090925C>A , CM000663.1:g.193090925C>A	GRCh37
NC_000001.9:g.191357548C>A	NCBI36
NG_012691.1:g.4838C>A , LRG_507:g.4838C>A

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1862G>T