Canonical Allele Identifier: CA472236196

Gene: KCNQ1 KCNQ1OT1

Linked Data

• ClinVar Variation Id: 2748934
• ClinVar RCV Id: RCV003531747
• gnomAD v4: 11-2661952-T-C
• MyVariant Identifiers: chr11:g.2683182T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2661952T>C , CM000673.2:g.2661952T>C	GRCh38
NC_000011.9:g.2683182T>C , CM000673.1:g.2683182T>C	GRCh37
NC_000011.8:g.2639758T>C	NCBI36
NG_008935.1:g.221962T>C , LRG_287:g.221962T>C
NG_016178.2:g.43047A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1037-9T>C (KCNQ1)	ENSP00000434560.2:n.1037-9T>C
ENST00000646564.2:c.854-9T>C (KCNQ1)	ENSP00000495806.2:n.854-9T>C
ENST00000155840.12:c.1394-9T>C (KCNQ1) MANE Select	ENSP00000155840.2:n.1394-9T>C
ENST00000335475.6:c.1013-9T>C (KCNQ1)	ENSP00000334497.5:n.1013-9T>C
ENST00000646564.1:c.500-9T>C (KCNQ1)	ENSP00000495806.1:n.500-9T>C
ENST00000155840.9:c.1394-9T>C (KCNQ1)	ENSP00000155840.2:n.1394-9T>C
ENST00000335475.5:c.1013-9T>C (KCNQ1)	ENSP00000334497.5:n.1013-9T>C
NM_000218.2:c.1394-9T>C , LRG_287t1:c.1394-9T>C (KCNQ1)	NP_000209.2:n.1394-9T>C
NM_181798.1:c.1013-9T>C , LRG_287t2:c.1013-9T>C (KCNQ1)	NP_861463.1:n.1013-9T>C
NR_002728.3:n.38047A>G (KCNQ1OT1)
NM_000218.3:c.1394-9T>C (KCNQ1) MANE Select	NP_000209.2:n.1394-9T>C