Canonical Allele Identifier: CA20757629

Gene:

Linked Data

• dbSNP Id: rs1035407801
• gnomAD v2: 1-34989189-G-A
• gnomAD v3: 1-34523588-G-A
• gnomAD v4: 1-34523588-G-A
• MyVariant Identifiers: chr1:g.34989189G>A (hg19) ; chr1:g.34523588G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34523588G>A , CM000663.2:g.34523588G>A	GRCh38
NC_000001.10:g.34989189G>A , CM000663.1:g.34989189G>A	GRCh37
NC_000001.9:g.34761776G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_947171.1:n.1073+23991C>T
XR_001737964.1:n.991+23991C>T