Canonical Allele Identifier: CA528311416

Gene:

Linked Data

• dbSNP Id: rs1442332031
• gnomAD v2: 1-200998904-A-T
• gnomAD v3: 1-201029776-A-T
• gnomAD v4: 1-201029776-A-T
• MyVariant Identifiers: chr1:g.200998904A>T (hg19) ; chr1:g.201029776A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201029776A>T , CM000663.2:g.201029776A>T	GRCh38
NC_000001.10:g.200998904A>T , CM000663.1:g.200998904A>T	GRCh37
NC_000001.9:g.199265527A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_241170.3:n.423-802A>T
XR_922405.1:n.961-802A>T
XR_922406.1:n.1239-802A>T
XR_922407.1:n.1149-802A>T
XR_922408.1:n.327-802A>T
XR_922409.1:n.961-802A>T
XR_922410.1:n.349-802A>T
XR_922411.1:n.941-802A>T
XR_922412.1:n.1155-802A>T
XR_922413.1:n.1051-802A>T
XR_922414.1:n.258-802A>T
XR_922415.1:n.961-802A>T
XR_922416.1:n.267-802A>T
XR_922417.1:n.845-802A>T
XR_922418.1:n.961-802A>T
XR_922419.1:n.960+4157A>T
XR_922420.1:n.961-802A>T
XR_001738364.1:n.610-802A>T
XR_001738365.1:n.520-802A>T
XR_001738366.1:n.332-802A>T
XR_001738367.1:n.526-802A>T
XR_001738368.1:n.422-802A>T
XR_001738369.1:n.332-802A>T
XR_001738370.1:n.332-802A>T
XR_001738371.1:n.331+4157A>T
XR_001738372.1:n.332-802A>T
XR_922405.3:n.1071-802A>T
XR_922407.3:n.1259-802A>T
XR_922408.2:n.332-802A>T
XR_922410.2:n.341-802A>T
XR_922414.2:n.250-802A>T
XR_922416.2:n.259-802A>T
XR_922417.3:n.955-802A>T