Canonical Allele Identifier: CA034703
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2848269G>A
GRCh37 chr11:g.2869499G>A
gnomAD v2:
11:2869499 G / A
gnomAD v3:
11:2848269 G / A
gnomAD v4:
chr11-2848269-G-A
Joint Max Group AF 0.00110007 (AFR)
Genomes Max Group AF 0.00093661 (AFR)
Exomes Max Group AF 0.00122884 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848269G>A , CM000673.2:g.2848269G>A GRCh38
NC_000011.9:g.2869499G>A , CM000673.1:g.2869499G>A GRCh37
NC_000011.8:g.2826075G>A NCBI36
NG_008935.1:g.408279G>A , LRG_287:g.408279G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*266G>A (KCNQ1) ENSP00000434560.2:n.*266G>A
ENST00000155840.12:c.*266G>A (KCNQ1) MANE Select ENSP00000155840.2:n.*266G>A
ENST00000335475.6:c.*266G>A (KCNQ1) ENSP00000334497.5:n.*266G>A
ENST00000526095.2:c.*266G>A (KCNQ1) ENSP00000494939.1:n.*266G>A
ENST00000155840.9:c.*266G>A (KCNQ1) ENSP00000155840.2:n.*266G>A
ENST00000526095.1:n.804G>A (KCNQ1)
NM_000218.2:c.*266G>A , LRG_287t1:c.*266G>A (KCNQ1) NP_000209.2:n.*266G>A
NM_181798.1:c.*266G>A , LRG_287t2:c.*266G>A (KCNQ1) NP_861463.1:n.*266G>A
NR_130721.1:n.778-7827C>T (KCNQ1-AS1)
NM_000218.3:c.*266G>A (KCNQ1) MANE Select NP_000209.2:n.*266G>A
Search 100 bp 5'
Search 100 bp 3'