Canonical Allele Identifier: CA527707482

Gene:

Linked Data

• dbSNP Id: rs1336887776
• gnomAD v2: 1-193090907-T-C
• gnomAD v4: 1-193121777-T-C
• MyVariant Identifiers: chr1:g.193090907T>C (hg19) ; chr1:g.193121777T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121777T>C , CM000663.2:g.193121777T>C	GRCh38
NC_000001.10:g.193090907T>C , CM000663.1:g.193090907T>C	GRCh37
NC_000001.9:g.191357530T>C	NCBI36
NG_012691.1:g.4820T>C , LRG_507:g.4820T>C

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1880A>G