Canonical Allele Identifier: CA2649624227

Gene:

Linked Data

• gnomAD v4: 1-193121743-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121743G>C , CM000663.2:g.193121743G>C	GRCh38
NC_000001.10:g.193090873G>C , CM000663.1:g.193090873G>C	GRCh37
NC_000001.9:g.191357496G>C	NCBI36
NG_012691.1:g.4786G>C , LRG_507:g.4786G>C

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1914C>G