Canonical Allele Identifier: CA1948350316
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2849058C= , CM000673.2:g.2849058C= GRCh38
NC_000011.9:g.2870288C= , CM000673.1:g.2870288C= GRCh37
NC_000011.8:g.2826864C= NCBI36
NG_008935.1:g.409068C= , LRG_287:g.409068C=

Transcript Alleles

HGVS Amino-acid change
ENST00000155840.12:c.*1055C= (KCNQ1) MANE Select ENSP00000155840.2:n.*1055C=
ENST00000155840.9:c.*1055C= (KCNQ1) ENSP00000155840.2:n.*1055C=
NM_000218.2:c.*1055C= , LRG_287t1:c.*1055C= (KCNQ1) NP_000209.2:n.*1055C=
NM_181798.1:c.*1055C= , LRG_287t2:c.*1055C= (KCNQ1) NP_861463.1:n.*1055C=
NR_130721.1:n.778-8616G= (KCNQ1-AS1)
NM_000218.3:c.*1055C= (KCNQ1) MANE Select NP_000209.2:n.*1055C=