Canonical Allele Identifier: CA006538
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2847848G>A
GRCh37 chr11:g.2869078G>A
Revel Score:
ENST00000155840 (MANE Select) 0.566
ENST00000335475 0.566
gnomAD v2:
11:2869078 G / A
gnomAD v3:
11:2847848 G / A
gnomAD v4:
chr11-2847848-G-A
Joint Max Group AF 0.00004421 (AFR)
Genomes Max Group AF 0.00002261 (AMR)
Exomes Max Group AF 0.00009987 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847848G>A , CM000673.2:g.2847848G>A GRCh38
NC_000011.9:g.2869078G>A , CM000673.1:g.2869078G>A GRCh37
NC_000011.8:g.2825654G>A NCBI36
NG_008935.1:g.407858G>A , LRG_287:g.407858G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1519G>A (KCNQ1) ENSP00000434560.2:p.Gly507Ser
ENST00000155840.12:c.1876G>A (KCNQ1) MANE Select ENSP00000155840.2:p.Gly626Ser
ENST00000335475.6:c.1495G>A (KCNQ1) ENSP00000334497.5:p.Gly499Ser
ENST00000526095.2:c.280G>A (KCNQ1) ENSP00000494939.1:p.Gly94Ser
ENST00000155840.9:c.1876G>A (KCNQ1) ENSP00000155840.2:p.Gly626Ser
ENST00000335475.5:c.1495G>A (KCNQ1) ENSP00000334497.5:p.Gly499Ser
ENST00000526095.1:n.383G>A (KCNQ1)
NM_000218.2:c.1876G>A , LRG_287t1:c.1876G>A (KCNQ1) NP_000209.2:p.Gly626Ser
NM_181798.1:c.1495G>A , LRG_287t2:c.1495G>A (KCNQ1) NP_861463.1:p.Gly499Ser
NR_130721.1:n.778-7406C>T (KCNQ1-AS1)
NM_000218.3:c.1876G>A (KCNQ1) MANE Select NP_000209.2:p.Gly626Ser
Search 100 bp 5'
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