Canonical Allele Identifier: CA1948247620
Gene: KCNQ1 HGNC NCBI
KCNQ1OT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2661990_2661994delinsAGCAT , CM000673.2:g.2661990_2661994delinsAGCAT GRCh38
NC_000011.9:g.2683220_2683224delinsAGCAT , CM000673.1:g.2683220_2683224delinsAGCAT GRCh37
NC_000011.8:g.2639796_2639800delinsAGCAT NCBI36
NG_008935.1:g.222000_222004delinsAGCAT , LRG_287:g.222000_222004delinsAGCAT
NG_016178.2:g.43005_43009delinsATGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1066_1070delinsAGCAT (KCNQ1) ENSP00000434560.2:p.Ser356=
ENST00000646564.2:c.883_887delinsAGCAT (KCNQ1) ENSP00000495806.2:p.Ser295=
ENST00000155840.12:c.1423_1427delinsAGCAT (KCNQ1) MANE Select ENSP00000155840.2:p.Ser475=
ENST00000335475.6:c.1042_1046delinsAGCAT (KCNQ1) ENSP00000334497.5:p.Ser348=
ENST00000646564.1:c.529_533delinsAGCAT (KCNQ1) ENSP00000495806.1:p.Ser177=
ENST00000155840.9:c.1423_1427delinsAGCAT (KCNQ1) ENSP00000155840.2:p.Ser475=
ENST00000335475.5:c.1042_1046delinsAGCAT (KCNQ1) ENSP00000334497.5:p.Ser348=
NM_000218.2:c.1423_1427delinsAGCAT , LRG_287t1:c.1423_1427delinsAGCAT (KCNQ1) NP_000209.2:p.Ser475=
NM_181798.1:c.1042_1046delinsAGCAT , LRG_287t2:c.1042_1046delinsAGCAT (KCNQ1) NP_861463.1:p.Ser348=
NR_002728.3:n.38005_38009delinsATGCT (KCNQ1OT1)
NM_000218.3:c.1423_1427delinsAGCAT (KCNQ1) MANE Select NP_000209.2:p.Ser475=