Canonical Allele Identifier: CA379479630

Gene: KCNQ1 KCNQ1OT1

Linked Data

• ClinVar Variation Id: 1490034
• ClinVar RCV Id: RCV001983553
• dbSNP Id: rs2133856134
• gnomAD v4: 11-2662029-G-A
• MyVariant Identifiers: chr11:g.2683259G>A (hg19) ; chr11:g.2662029G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662029G>A , CM000673.2:g.2662029G>A	GRCh38
NC_000011.9:g.2683259G>A , CM000673.1:g.2683259G>A	GRCh37
NC_000011.8:g.2639835G>A	NCBI36
NG_008935.1:g.222039G>A , LRG_287:g.222039G>A
NG_016178.2:g.42970C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1105G>A (KCNQ1)	ENSP00000434560.2:p.Asp369Asn
ENST00000646564.2:c.922G>A (KCNQ1)	ENSP00000495806.2:p.Asp308Asn
ENST00000155840.12:c.1462G>A (KCNQ1) MANE Select	ENSP00000155840.2:p.Asp488Asn
ENST00000335475.6:c.1081G>A (KCNQ1)	ENSP00000334497.5:p.Asp361Asn
ENST00000646564.1:c.568G>A (KCNQ1)	ENSP00000495806.1:p.Asp190Asn
ENST00000155840.9:c.1462G>A (KCNQ1)	ENSP00000155840.2:p.Asp488Asn
ENST00000335475.5:c.1081G>A (KCNQ1)	ENSP00000334497.5:p.Asp361Asn
NM_000218.2:c.1462G>A , LRG_287t1:c.1462G>A (KCNQ1)	NP_000209.2:p.Asp488Asn
NM_181798.1:c.1081G>A , LRG_287t2:c.1081G>A (KCNQ1)	NP_861463.1:p.Asp361Asn
NR_002728.3:n.37970C>T (KCNQ1OT1)
NM_000218.3:c.1462G>A (KCNQ1) MANE Select	NP_000209.2:p.Asp488Asn