Canonical Allele Identifier: CA005760
Gene: KCNQ1 HGNC NCBI
KCNQ1OT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67032
dbSNP Id: rs199472784

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2661997C>T , CM000673.2:g.2661997C>T GRCh38
NC_000011.9:g.2683227C>T , CM000673.1:g.2683227C>T GRCh37
NC_000011.8:g.2639803C>T NCBI36
NG_008935.1:g.222007C>T , LRG_287:g.222007C>T
NG_016178.2:g.43002G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.1073C>T (KCNQ1) ENSP00000434560.2:p.Pro358Leu
ENST00000646564.2:c.890C>T (KCNQ1) ENSP00000495806.2:p.Pro297Leu
ENST00000155840.12:c.1430C>T (KCNQ1) MANE Select ENSP00000155840.2:p.Pro477Leu
ENST00000335475.6:c.1049C>T (KCNQ1) ENSP00000334497.5:p.Pro350Leu
ENST00000646564.1:c.536C>T (KCNQ1) ENSP00000495806.1:p.Pro179Leu
ENST00000155840.9:c.1430C>T (KCNQ1) ENSP00000155840.2:p.Pro477Leu
ENST00000335475.5:c.1049C>T (KCNQ1) ENSP00000334497.5:p.Pro350Leu
NM_000218.2:c.1430C>T , LRG_287t1:c.1430C>T (KCNQ1) NP_000209.2:p.Pro477Leu
NM_181798.1:c.1049C>T , LRG_287t2:c.1049C>T (KCNQ1) NP_861463.1:p.Pro350Leu
NR_002728.3:n.38002G>A (KCNQ1OT1)
NM_000218.3:c.1430C>T (KCNQ1) MANE Select NP_000209.2:p.Pro477Leu