Canonical Allele Identifier: CA1011167807

Gene:

Linked Data

• dbSNP Id: rs1659422883
• gnomAD v3: 1-201029373-G-A
• gnomAD v4: 1-201029373-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201029373G>A , CM000663.2:g.201029373G>A	GRCh38
NC_000001.10:g.200998501G>A , CM000663.1:g.200998501G>A	GRCh37
NC_000001.9:g.199265124G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_241170.3:n.423-1205G>A
XR_922405.1:n.961-1205G>A
XR_922406.1:n.1238+759G>A
XR_922407.1:n.1149-1205G>A
XR_922408.1:n.327-1205G>A
XR_922409.1:n.961-1205G>A
XR_922410.1:n.349-1205G>A
XR_922411.1:n.941-1205G>A
XR_922412.1:n.1154+759G>A
XR_922413.1:n.1050+759G>A
XR_922414.1:n.258-1205G>A
XR_922415.1:n.961-1205G>A
XR_922416.1:n.267-1205G>A
XR_922417.1:n.845-1205G>A
XR_922418.1:n.961-1205G>A
XR_922419.1:n.960+3754G>A
XR_922420.1:n.961-1205G>A
XR_001738364.1:n.609+759G>A
XR_001738365.1:n.520-1205G>A
XR_001738366.1:n.332-1205G>A
XR_001738367.1:n.525+759G>A
XR_001738368.1:n.421+759G>A
XR_001738369.1:n.332-1205G>A
XR_001738370.1:n.332-1205G>A
XR_001738371.1:n.331+3754G>A
XR_001738372.1:n.332-1205G>A
XR_922405.3:n.1071-1205G>A
XR_922407.3:n.1259-1205G>A
XR_922408.2:n.332-1205G>A
XR_922410.2:n.341-1205G>A
XR_922414.2:n.250-1205G>A
XR_922416.2:n.259-1205G>A
XR_922417.3:n.955-1205G>A