Canonical Allele Identifier: CA734382553

Gene:

Linked Data

• dbSNP Id: rs1165488032
• gnomAD v3: 1-2567455-C-T
• gnomAD v4: 1-2567455-C-T
• MyVariant Identifiers: chr1:g.2498894C>T (hg19) ; chr1:g.2567455C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2567455C>T , CM000663.2:g.2567455C>T	GRCh38
NC_000001.10:g.2498894C>T , CM000663.1:g.2498894C>T	GRCh37
NC_000001.9:g.2475524G>A	NCBI36
NG_047096.1:g.16091C>T

Transcript Alleles

HGVS	Amino-acid change
NR_121638.1:n.71+850C>T