Canonical Allele Identifier: CA216346294
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 880424
ClinVar RCV Id: RCV001108719 RCV001108720 RCV001108721 RCV001108718
dbSNP Id: rs930321240
gnomAD v2: 11-2869963-C-T
gnomAD v3: 11-2848733-C-T
gnomAD v4: 11-2848733-C-T
MyVariant Identifiers: chr11:g.2869963C>T (hg19) chr11:g.2848733C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848733C>T , CM000673.2:g.2848733C>T GRCh38
NC_000011.9:g.2869963C>T , CM000673.1:g.2869963C>T GRCh37
NC_000011.8:g.2826539C>T NCBI36
NG_008935.1:g.408743C>T , LRG_287:g.408743C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*730C>T (KCNQ1) ENSP00000434560.2:n.*730C>T
ENST00000155840.12:c.*730C>T (KCNQ1) MANE Select ENSP00000155840.2:n.*730C>T
ENST00000335475.6:c.*730C>T (KCNQ1) ENSP00000334497.5:n.*730C>T
ENST00000155840.9:c.*730C>T (KCNQ1) ENSP00000155840.2:n.*730C>T
NM_000218.2:c.*730C>T , LRG_287t1:c.*730C>T (KCNQ1) NP_000209.2:n.*730C>T
NM_181798.1:c.*730C>T , LRG_287t2:c.*730C>T (KCNQ1) NP_861463.1:n.*730C>T
NR_130721.1:n.778-8291G>A (KCNQ1-AS1)
NM_000218.3:c.*730C>T (KCNQ1) MANE Select NP_000209.2:n.*730C>T
Search 100 bp 5'
Search 100 bp 3'