Canonical Allele Identifier: CA1303193

Gene:

Linked Data

• dbSNP Id: rs775171489
• ExAC: 1:193090927 G / C
• gnomAD v2: 1-193090927-G-C
• gnomAD v3: 1-193121797-G-C
• gnomAD v4: 1-193121797-G-C
• MyVariant Identifiers: chr1:g.193090927G>C (hg19) ; chr1:g.193121797G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121797G>C , CM000663.2:g.193121797G>C	GRCh38
NC_000001.10:g.193090927G>C , CM000663.1:g.193090927G>C	GRCh37
NC_000001.9:g.191357550G>C	NCBI36
NG_012691.1:g.4840G>C , LRG_507:g.4840G>C

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1860C>G