Canonical Allele Identifier: CA1216113175

Gene:

Linked Data

• dbSNP Id: rs1194339089
• gnomAD v4: 1-193121843-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121843C>G , CM000663.2:g.193121843C>G	GRCh38
NC_000001.10:g.193090973C>G , CM000663.1:g.193090973C>G	GRCh37
NC_000001.9:g.191357596C>G	NCBI36
NG_012691.1:g.4886C>G , LRG_507:g.4886C>G

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1814G>C