Canonical Allele Identifier: CA006526
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2847833G>A
GRCh37 chr11:g.2869063G>A
Revel Score:
ENST00000155840 (MANE Select) 0.571
ENST00000335475 0.571
gnomAD v2:
11:2869063 G / A
gnomAD v3:
11:2847833 G / A
gnomAD v4:
chr11-2847833-G-A
Joint Max Group AF 0.0002799 (AFR)
Genomes Max Group AF 0.00055236 (AMR)
Exomes Max Group AF 0.00016685 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847833G>A , CM000673.2:g.2847833G>A GRCh38
NC_000011.9:g.2869063G>A , CM000673.1:g.2869063G>A GRCh37
NC_000011.8:g.2825639G>A NCBI36
NG_008935.1:g.407843G>A , LRG_287:g.407843G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1504G>A (KCNQ1) ENSP00000434560.2:p.Gly502Ser
ENST00000155840.12:c.1861G>A (KCNQ1) MANE Select ENSP00000155840.2:p.Gly621Ser
ENST00000335475.6:c.1480G>A (KCNQ1) ENSP00000334497.5:p.Gly494Ser
ENST00000526095.2:c.265G>A (KCNQ1) ENSP00000494939.1:p.Gly89Ser
ENST00000155840.9:c.1861G>A (KCNQ1) ENSP00000155840.2:p.Gly621Ser
ENST00000335475.5:c.1480G>A (KCNQ1) ENSP00000334497.5:p.Gly494Ser
ENST00000526095.1:n.368G>A (KCNQ1)
NM_000218.2:c.1861G>A , LRG_287t1:c.1861G>A (KCNQ1) NP_000209.2:p.Gly621Ser
NM_181798.1:c.1480G>A , LRG_287t2:c.1480G>A (KCNQ1) NP_861463.1:p.Gly494Ser
NR_130721.1:n.778-7391C>T (KCNQ1-AS1)
NM_000218.3:c.1861G>A (KCNQ1) MANE Select NP_000209.2:p.Gly621Ser
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