Canonical Allele Identifier: CA34407460

Gene:

Linked Data

• dbSNP Id: rs1020495170
• gnomAD v4: 1-193121879-C-A
• MyVariant Identifiers: chr1:g.193091009C>A (hg19) ; chr1:g.193121879C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121879C>A , CM000663.2:g.193121879C>A	GRCh38
NC_000001.10:g.193091009C>A , CM000663.1:g.193091009C>A	GRCh37
NC_000001.9:g.191357632C>A	NCBI36
NG_012691.1:g.4922C>A , LRG_507:g.4922C>A

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1778G>T