Canonical Allele Identifier: CA522076174

Gene:

Linked Data

• dbSNP Id: rs1186438648
• gnomAD v2: 1-34989114-T-C
• gnomAD v3: 1-34523513-T-C
• gnomAD v4: 1-34523513-T-C
• MyVariant Identifiers: chr1:g.34989114T>C (hg19) ; chr1:g.34523513T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34523513T>C , CM000663.2:g.34523513T>C	GRCh38
NC_000001.10:g.34989114T>C , CM000663.1:g.34989114T>C	GRCh37
NC_000001.9:g.34761701T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_947171.1:n.1073+24066A>G
XR_001737964.1:n.991+24066A>G