Canonical Allele Identifier: CA16956845

Gene:

Linked Data

• dbSNP Id: rs900841132
• MyVariant Identifiers: chr1:g.2498870C>T (hg19) ; chr1:g.2567431C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2567431C>T , CM000663.2:g.2567431C>T	GRCh38
NC_000001.10:g.2498870C>T , CM000663.1:g.2498870C>T	GRCh37
NC_000001.9:g.2475548G>A	NCBI36
NG_047096.1:g.16067C>T

Transcript Alleles

HGVS	Amino-acid change
NR_121638.1:n.71+826C>T