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

Linked Data

ClinVar Variation Id: 304246
ClinVar RCV Id: RCV000300037 RCV000313034 RCV000338558 RCV000397713 RCV000403422
dbSNP Id: rs886048170
gnomAD v4: 11-2848401-C-T
MyVariant Identifiers: chr11:g.2869631C>T (hg19) chr11:g.2848401C>T (hg38)
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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
ENST00000496887.7:c.*398C>T (KCNQ1) ENSP00000434560.2:n.*398C>T
ENST00000155840.12:c.*398C>T (KCNQ1) MANE Select ENSP00000155840.2:n.*398C>T
ENST00000335475.6:c.*398C>T (KCNQ1) ENSP00000334497.5:n.*398C>T
ENST00000155840.9:c.*398C>T (KCNQ1) ENSP00000155840.2:n.*398C>T
ENST00000526095.1:n.936C>T (KCNQ1)
NM_000218.2:c.*398C>T , LRG_287t1:c.*398C>T (KCNQ1) NP_000209.2:n.*398C>T
NM_181798.1:c.*398C>T , LRG_287t2:c.*398C>T (KCNQ1) NP_861463.1:n.*398C>T
NR_130721.1:n.778-7959G>A (KCNQ1-AS1)
NM_000218.3:c.*398C>T (KCNQ1) MANE Select NP_000209.2:n.*398C>T
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