Canonical Allele Identifier: CA1948349870
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848225C= , CM000673.2:g.2848225C= GRCh38
NC_000011.9:g.2869455C= , CM000673.1:g.2869455C= GRCh37
NC_000011.8:g.2826031C= NCBI36
NG_008935.1:g.408235C= , LRG_287:g.408235C=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.*222C= (KCNQ1) ENSP00000434560.2:n.*222C=
ENST00000155840.12:c.*222C= (KCNQ1) MANE Select ENSP00000155840.2:n.*222C=
ENST00000335475.6:c.*222C= (KCNQ1) ENSP00000334497.5:n.*222C=
ENST00000526095.2:c.*222C= (KCNQ1) ENSP00000494939.1:n.*222C=
ENST00000155840.9:c.*222C= (KCNQ1) ENSP00000155840.2:n.*222C=
ENST00000335475.5:c.*222C= (KCNQ1) ENSP00000334497.5:n.*222C=
ENST00000526095.1:n.760C= (KCNQ1)
NM_000218.2:c.*222C= , LRG_287t1:c.*222C= (KCNQ1) NP_000209.2:n.*222C=
NM_181798.1:c.*222C= , LRG_287t2:c.*222C= (KCNQ1) NP_861463.1:n.*222C=
NR_130721.1:n.778-7783G= (KCNQ1-AS1)
NM_000218.3:c.*222C= (KCNQ1) MANE Select NP_000209.2:n.*222C=