Canonical Allele Identifier: CA34407341

Gene:

Linked Data

• dbSNP Id: rs1014716124
• gnomAD v4: 1-193121813-C-G
• MyVariant Identifiers: chr1:g.193090943C>G (hg19) ; chr1:g.193121813C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121813C>G , CM000663.2:g.193121813C>G	GRCh38
NC_000001.10:g.193090943C>G , CM000663.1:g.193090943C>G	GRCh37
NC_000001.9:g.191357566C>G	NCBI36
NG_012691.1:g.4856C>G , LRG_507:g.4856C>G

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1844G>C