Canonical Allele Identifier: CA36799004

Gene:

Linked Data

• dbSNP Id: rs12569232
• gnomAD v2: 1-211553064-G-T
• gnomAD v3: 1-211379722-G-T
• gnomAD v4: 1-211379722-G-T
• MyVariant Identifiers: chr1:g.211553064G>T (hg19) ; chr1:g.211379722G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211379722G>T , CM000663.2:g.211379722G>T	GRCh38
NC_000001.10:g.211553064G>T , CM000663.1:g.211553064G>T	GRCh37
NC_000001.9:g.209619687G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001738446.1:n.291+2473C>A