Canonical Allele Identifier: CA379479666

Gene: KCNQ1 KCNQ1OT1

Linked Data

• ClinVar Variation Id: 922460
• ClinVar RCV Id: RCV001843130
• dbSNP Id: rs1849967564
• gnomAD v4: 11-2662036-A-G
• MyVariant Identifiers: chr11:g.2683266A>G (hg19) ; chr11:g.2662036A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662036A>G , CM000673.2:g.2662036A>G	GRCh38
NC_000011.9:g.2683266A>G , CM000673.1:g.2683266A>G	GRCh37
NC_000011.8:g.2639842A>G	NCBI36
NG_008935.1:g.222046A>G , LRG_287:g.222046A>G
NG_016178.2:g.42963T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1112A>G (KCNQ1)	ENSP00000434560.2:p.Asp371Gly
ENST00000646564.2:c.929A>G (KCNQ1)	ENSP00000495806.2:p.Asp310Gly
ENST00000155840.12:c.1469A>G (KCNQ1) MANE Select	ENSP00000155840.2:p.Asp490Gly
ENST00000335475.6:c.1088A>G (KCNQ1)	ENSP00000334497.5:p.Asp363Gly
ENST00000646564.1:c.575A>G (KCNQ1)	ENSP00000495806.1:p.Asp192Gly
ENST00000155840.9:c.1469A>G (KCNQ1)	ENSP00000155840.2:p.Asp490Gly
ENST00000335475.5:c.1088A>G (KCNQ1)	ENSP00000334497.5:p.Asp363Gly
NM_000218.2:c.1469A>G , LRG_287t1:c.1469A>G (KCNQ1)	NP_000209.2:p.Asp490Gly
NM_181798.1:c.1088A>G , LRG_287t2:c.1088A>G (KCNQ1)	NP_861463.1:p.Asp363Gly
NR_002728.3:n.37963T>C (KCNQ1OT1)
NM_000218.3:c.1469A>G (KCNQ1) MANE Select	NP_000209.2:p.Asp490Gly