Canonical Allele Identifier: CA528311388

Gene:

Linked Data

• dbSNP Id: rs1174040793
• gnomAD v2: 1-200998397-A-C
• gnomAD v3: 1-201029269-A-C
• gnomAD v4: 1-201029269-A-C
• MyVariant Identifiers: chr1:g.200998397A>C (hg19) ; chr1:g.201029269A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201029269A>C , CM000663.2:g.201029269A>C	GRCh38
NC_000001.10:g.200998397A>C , CM000663.1:g.200998397A>C	GRCh37
NC_000001.9:g.199265020A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_241170.3:n.423-1309A>C
XR_922405.1:n.961-1309A>C
XR_922406.1:n.1238+655A>C
XR_922407.1:n.1149-1309A>C
XR_922408.1:n.327-1309A>C
XR_922409.1:n.961-1309A>C
XR_922410.1:n.349-1309A>C
XR_922411.1:n.941-1309A>C
XR_922412.1:n.1154+655A>C
XR_922413.1:n.1050+655A>C
XR_922414.1:n.258-1309A>C
XR_922415.1:n.961-1309A>C
XR_922416.1:n.267-1309A>C
XR_922417.1:n.845-1309A>C
XR_922418.1:n.961-1309A>C
XR_922419.1:n.960+3650A>C
XR_922420.1:n.961-1309A>C
XR_001738364.1:n.609+655A>C
XR_001738365.1:n.520-1309A>C
XR_001738366.1:n.332-1309A>C
XR_001738367.1:n.525+655A>C
XR_001738368.1:n.421+655A>C
XR_001738369.1:n.332-1309A>C
XR_001738370.1:n.332-1309A>C
XR_001738371.1:n.331+3650A>C
XR_001738372.1:n.332-1309A>C
XR_922405.3:n.1071-1309A>C
XR_922407.3:n.1259-1309A>C
XR_922408.2:n.332-1309A>C
XR_922410.2:n.341-1309A>C
XR_922414.2:n.250-1309A>C
XR_922416.2:n.259-1309A>C
XR_922417.3:n.955-1309A>C