Canonical Allele Identifier: CA89721276

Gene:

Linked Data

• dbSNP Id: rs535004043
• gnomAD v2: 3-190004241-A-T
• gnomAD v3: 3-190286452-A-T
• gnomAD v4: 3-190286452-A-T
• MyVariant Identifiers: chr3:g.190004241A>T (hg19) ; chr3:g.190286452A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190286452A>T , CM000665.2:g.190286452A>T	GRCh38
NC_000003.11:g.190004241A>T , CM000665.1:g.190004241A>T	GRCh37
NC_000003.10:g.191486935A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001741069.1:n.89-4026A>T