Canonical Allele Identifier: CA38657620

Gene:

Linked Data

• dbSNP Id: rs1053736612
• gnomAD v2: 1-224256274-T-G
• gnomAD v3: 1-224068572-T-G
• gnomAD v4: 1-224068572-T-G
• MyVariant Identifiers: chr1:g.224256274T>G (hg19) ; chr1:g.224068572T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.224068572T>G , CM000663.2:g.224068572T>G	GRCh38
NC_000001.10:g.224256274T>G , CM000663.1:g.224256274T>G	GRCh37
NC_000001.9:g.222322897T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949173.1:n.385+918T>G
XR_001737824.1:n.242+918T>G