Canonical Allele Identifier: CA730074128

Gene:

Linked Data

• dbSNP Id: rs1203976959
• gnomAD v3: 1-201029610-C-T
• gnomAD v4: 1-201029610-C-T
• MyVariant Identifiers: chr1:g.200998738C>T (hg19) ; chr1:g.201029610C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201029610C>T , CM000663.2:g.201029610C>T	GRCh38
NC_000001.10:g.200998738C>T , CM000663.1:g.200998738C>T	GRCh37
NC_000001.9:g.199265361C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_241170.3:n.423-968C>T
XR_922405.1:n.961-968C>T
XR_922406.1:n.1239-968C>T
XR_922407.1:n.1149-968C>T
XR_922408.1:n.327-968C>T
XR_922409.1:n.961-968C>T
XR_922410.1:n.349-968C>T
XR_922411.1:n.941-968C>T
XR_922412.1:n.1155-968C>T
XR_922413.1:n.1051-968C>T
XR_922414.1:n.258-968C>T
XR_922415.1:n.961-968C>T
XR_922416.1:n.267-968C>T
XR_922417.1:n.845-968C>T
XR_922418.1:n.961-968C>T
XR_922419.1:n.960+3991C>T
XR_922420.1:n.961-968C>T
XR_001738364.1:n.610-968C>T
XR_001738365.1:n.520-968C>T
XR_001738366.1:n.332-968C>T
XR_001738367.1:n.526-968C>T
XR_001738368.1:n.422-968C>T
XR_001738369.1:n.332-968C>T
XR_001738370.1:n.332-968C>T
XR_001738371.1:n.331+3991C>T
XR_001738372.1:n.332-968C>T
XR_922405.3:n.1071-968C>T
XR_922407.3:n.1259-968C>T
XR_922408.2:n.332-968C>T
XR_922410.2:n.341-968C>T
XR_922414.2:n.250-968C>T
XR_922416.2:n.259-968C>T
XR_922417.3:n.955-968C>T