Canonical Allele Identifier: CA35978270

Gene:

Linked Data

• dbSNP Id: rs879780063
• gnomAD v3: 1-201029801-G-A
• gnomAD v4: 1-201029801-G-A
• MyVariant Identifiers: chr1:g.200998929G>A (hg19) ; chr1:g.201029801G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201029801G>A , CM000663.2:g.201029801G>A	GRCh38
NC_000001.10:g.200998929G>A , CM000663.1:g.200998929G>A	GRCh37
NC_000001.9:g.199265552G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_241170.3:n.423-777G>A
XR_922405.1:n.961-777G>A
XR_922406.1:n.1239-777G>A
XR_922407.1:n.1149-777G>A
XR_922408.1:n.327-777G>A
XR_922409.1:n.961-777G>A
XR_922410.1:n.349-777G>A
XR_922411.1:n.941-777G>A
XR_922412.1:n.1155-777G>A
XR_922413.1:n.1051-777G>A
XR_922414.1:n.258-777G>A
XR_922415.1:n.961-777G>A
XR_922416.1:n.267-777G>A
XR_922417.1:n.845-777G>A
XR_922418.1:n.961-777G>A
XR_922419.1:n.960+4182G>A
XR_922420.1:n.961-777G>A
XR_001738364.1:n.610-777G>A
XR_001738365.1:n.520-777G>A
XR_001738366.1:n.332-777G>A
XR_001738367.1:n.526-777G>A
XR_001738368.1:n.422-777G>A
XR_001738369.1:n.332-777G>A
XR_001738370.1:n.332-777G>A
XR_001738371.1:n.331+4182G>A
XR_001738372.1:n.332-777G>A
XR_922405.3:n.1071-777G>A
XR_922407.3:n.1259-777G>A
XR_922408.2:n.332-777G>A
XR_922410.2:n.341-777G>A
XR_922414.2:n.250-777G>A
XR_922416.2:n.259-777G>A
XR_922417.3:n.955-777G>A