Canonical Allele Identifier: CA10630700
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 304246
dbSNP Id: rs886048170

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848401C>T , CM000673.2:g.2848401C>T GRCh38
NC_000011.9:g.2869631C>T , CM000673.1:g.2869631C>T GRCh37
NC_000011.8:g.2826207C>T NCBI36
NG_008935.1:g.408411C>T , LRG_287:g.408411C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000155840.12:c.*398C>T (KCNQ1) MANE Select ENSP00000155840.2:p.=
ENST00000335475.6:c.*398C>T ENSP00000334497.5:p.=
ENST00000155840.9:c.*398C>T ENSP00000155840.2:p.=
ENST00000526095.1:n.936C>T
NM_000218.2:c.*398C>T , LRG_287t1:c.*398C>T (KCNQ1) NP_000209.2:p.=
NM_181798.1:c.*398C>T , LRG_287t2:c.*398C>T (KCNQ1) NP_861463.1:p.=
NR_130721.1:n.778-7959G>A (KCNQ1-AS1)
NM_000218.3:c.*398C>T (KCNQ1) MANE Select NP_000209.2:p.=