Canonical Allele Identifier: CA006511
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2847827T>A
GRCh37 chr11:g.2869057T>A
Revel Score:
ENST00000155840 (MANE Select) 0.553
ENST00000335475 0.553
gnomAD v2:
11:2869057 T / A
gnomAD v4:
chr11-2847827-T-A
Joint Max Group AF 0.00000127 (NFE)
Exomes Max Group AF 0.00000135 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847827T>A , CM000673.2:g.2847827T>A GRCh38
NC_000011.9:g.2869057T>A , CM000673.1:g.2869057T>A GRCh37
NC_000011.8:g.2825633T>A NCBI36
NG_008935.1:g.407837T>A , LRG_287:g.407837T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1498T>A (KCNQ1) ENSP00000434560.2:p.Leu500Met
ENST00000155840.12:c.1855T>A (KCNQ1) MANE Select ENSP00000155840.2:p.Leu619Met
ENST00000335475.6:c.1474T>A (KCNQ1) ENSP00000334497.5:p.Leu492Met
ENST00000526095.2:c.259T>A (KCNQ1) ENSP00000494939.1:p.Leu87Met
ENST00000155840.9:c.1855T>A (KCNQ1) ENSP00000155840.2:p.Leu619Met
ENST00000335475.5:c.1474T>A (KCNQ1) ENSP00000334497.5:p.Leu492Met
ENST00000526095.1:n.362T>A (KCNQ1)
NM_000218.2:c.1855T>A , LRG_287t1:c.1855T>A (KCNQ1) NP_000209.2:p.Leu619Met
NM_181798.1:c.1474T>A , LRG_287t2:c.1474T>A (KCNQ1) NP_861463.1:p.Leu492Met
NR_130721.1:n.778-7385A>T (KCNQ1-AS1)
NM_000218.3:c.1855T>A (KCNQ1) MANE Select NP_000209.2:p.Leu619Met
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