Canonical Allele Identifier: CA040222
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs748877199
ExAC: 11:2869974 C / T
gnomAD v2: 11-2869974-C-T
gnomAD v3: 11-2848744-C-T
gnomAD v4: 11-2848744-C-T
MyVariant Identifiers: chr11:g.2869974C>T (hg19) chr11:g.2848744C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848744C>T , CM000673.2:g.2848744C>T GRCh38
NC_000011.9:g.2869974C>T , CM000673.1:g.2869974C>T GRCh37
NC_000011.8:g.2826550C>T NCBI36
NG_008935.1:g.408754C>T , LRG_287:g.408754C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*741C>T (KCNQ1) ENSP00000434560.2:n.*741C>T
ENST00000155840.12:c.*741C>T (KCNQ1) MANE Select ENSP00000155840.2:n.*741C>T
ENST00000335475.6:c.*741C>T (KCNQ1) ENSP00000334497.5:n.*741C>T
ENST00000155840.9:c.*741C>T (KCNQ1) ENSP00000155840.2:n.*741C>T
NM_000218.2:c.*741C>T , LRG_287t1:c.*741C>T (KCNQ1) NP_000209.2:n.*741C>T
NM_181798.1:c.*741C>T , LRG_287t2:c.*741C>T (KCNQ1) NP_861463.1:n.*741C>T
NR_130721.1:n.778-8302G>A (KCNQ1-AS1)
NM_000218.3:c.*741C>T (KCNQ1) MANE Select NP_000209.2:n.*741C>T
Search 100 bp 5'
Search 100 bp 3'