Canonical Allele Identifier: CA472054745
Gene: KCNQ1 HGNC NCBI
KCNQ1OT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.2652562A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2631332A>C , CM000673.2:g.2631332A>C GRCh38
NC_000011.9:g.2652562A>C , CM000673.1:g.2652562A>C GRCh37
NC_000011.8:g.2609138A>C NCBI36
NG_008935.1:g.191342A>C , LRG_287:g.191342A>C
NG_016178.2:g.73667T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1037-30629A>C (KCNQ1) ENSP00000434560.2:n.1037-30629A>C
ENST00000646564.2:c.854-30629A>C (KCNQ1) ENSP00000495806.2:n.854-30629A>C
ENST00000155840.12:c.1394-30629A>C (KCNQ1) MANE Select ENSP00000155840.2:n.1394-30629A>C
ENST00000335475.6:c.1013-30629A>C (KCNQ1) ENSP00000334497.5:n.1013-30629A>C
ENST00000646564.1:c.500-30629A>C (KCNQ1) ENSP00000495806.1:n.500-30629A>C
ENST00000155840.9:c.1394-30629A>C (KCNQ1) ENSP00000155840.2:n.1394-30629A>C
ENST00000335475.5:c.1013-30629A>C (KCNQ1) ENSP00000334497.5:n.1013-30629A>C
NM_000218.2:c.1394-30629A>C , LRG_287t1:c.1394-30629A>C (KCNQ1) NP_000209.2:n.1394-30629A>C
NM_181798.1:c.1013-30629A>C , LRG_287t2:c.1013-30629A>C (KCNQ1) NP_861463.1:n.1013-30629A>C
NR_002728.3:n.68667T>G (KCNQ1OT1)
NM_000218.3:c.1394-30629A>C (KCNQ1) MANE Select NP_000209.2:n.1394-30629A>C