Canonical Allele Identifier: CA1303186

Gene:

Linked Data

• dbSNP Id: rs748645853
• ExAC: 1:193090890 G / T
• gnomAD v2: 1-193090890-G-T
• gnomAD v4: 1-193121760-G-T
• MyVariant Identifiers: chr1:g.193090890G>T (hg19) ; chr1:g.193121760G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121760G>T , CM000663.2:g.193121760G>T	GRCh38
NC_000001.10:g.193090890G>T , CM000663.1:g.193090890G>T	GRCh37
NC_000001.9:g.191357513G>T	NCBI36
NG_012691.1:g.4803G>T , LRG_507:g.4803G>T

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1897C>A