Canonical Allele Identifier: CA2612011920
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

gnomAD v4: 11-2848384-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848384C>T , CM000673.2:g.2848384C>T GRCh38
NC_000011.9:g.2869614C>T , CM000673.1:g.2869614C>T GRCh37
NC_000011.8:g.2826190C>T NCBI36
NG_008935.1:g.408394C>T , LRG_287:g.408394C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.*381C>T (KCNQ1) ENSP00000434560.2:n.*381C>T
ENST00000155840.12:c.*381C>T (KCNQ1) MANE Select ENSP00000155840.2:n.*381C>T
ENST00000335475.6:c.*381C>T (KCNQ1) ENSP00000334497.5:n.*381C>T
ENST00000155840.9:c.*381C>T (KCNQ1) ENSP00000155840.2:n.*381C>T
ENST00000526095.1:n.919C>T (KCNQ1)
NM_000218.2:c.*381C>T , LRG_287t1:c.*381C>T (KCNQ1) NP_000209.2:n.*381C>T
NM_181798.1:c.*381C>T , LRG_287t2:c.*381C>T (KCNQ1) NP_861463.1:n.*381C>T
NR_130721.1:n.778-7942G>A (KCNQ1-AS1)
NM_000218.3:c.*381C>T (KCNQ1) MANE Select NP_000209.2:n.*381C>T
Search 100 bp 5'
Search 100 bp 3'