Canonical Allele Identifier: CA1303204

Gene:

Linked Data

• dbSNP Id: rs570103884
• ExAC: 1:193090976 T / C
• gnomAD v2: 1-193090976-T-C
• gnomAD v3: 1-193121846-T-C
• gnomAD v4: 1-193121846-T-C
• MyVariant Identifiers: chr1:g.193090976T>C (hg19) ; chr1:g.193121846T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121846T>C , CM000663.2:g.193121846T>C	GRCh38
NC_000001.10:g.193090976T>C , CM000663.1:g.193090976T>C	GRCh37
NC_000001.9:g.191357599T>C	NCBI36
NG_012691.1:g.4889T>C , LRG_507:g.4889T>C

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1811A>G