Canonical Allele Identifier: CA528311420

Gene:

Linked Data

• dbSNP Id: rs1404206729
• gnomAD v2: 1-200998970-A-G
• gnomAD v3: 1-201029842-A-G
• gnomAD v4: 1-201029842-A-G
• MyVariant Identifiers: chr1:g.200998970A>G (hg19) ; chr1:g.201029842A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201029842A>G , CM000663.2:g.201029842A>G	GRCh38
NC_000001.10:g.200998970A>G , CM000663.1:g.200998970A>G	GRCh37
NC_000001.9:g.199265593A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_241170.3:n.423-736A>G
XR_922405.1:n.961-736A>G
XR_922406.1:n.1239-736A>G
XR_922407.1:n.1149-736A>G
XR_922408.1:n.327-736A>G
XR_922409.1:n.961-736A>G
XR_922410.1:n.349-736A>G
XR_922411.1:n.941-736A>G
XR_922412.1:n.1155-736A>G
XR_922413.1:n.1051-736A>G
XR_922414.1:n.258-736A>G
XR_922415.1:n.961-736A>G
XR_922416.1:n.267-736A>G
XR_922417.1:n.845-736A>G
XR_922418.1:n.961-736A>G
XR_922419.1:n.960+4223A>G
XR_922420.1:n.961-736A>G
XR_001738364.1:n.610-736A>G
XR_001738365.1:n.520-736A>G
XR_001738366.1:n.332-736A>G
XR_001738367.1:n.526-736A>G
XR_001738368.1:n.422-736A>G
XR_001738369.1:n.332-736A>G
XR_001738370.1:n.332-736A>G
XR_001738371.1:n.331+4223A>G
XR_001738372.1:n.332-736A>G
XR_922405.3:n.1071-736A>G
XR_922407.3:n.1259-736A>G
XR_922408.2:n.332-736A>G
XR_922410.2:n.341-736A>G
XR_922414.2:n.250-736A>G
XR_922416.2:n.259-736A>G
XR_922417.3:n.955-736A>G