Canonical Allele Identifier: CA006603
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2847914G>A
GRCh37 chr11:g.2869144G>A
Revel Score:
ENST00000155840 (MANE Select) 0.335
ENST00000335475 0.335
gnomAD v2:
11:2869144 G / A
gnomAD v3:
11:2847914 G / A
gnomAD v4:
chr11-2847914-G-A
Joint Max Group AF 0.02248244 (AFR)
Genomes Max Group AF 0.02210295 (AFR)
Exomes Max Group AF 0.0221174 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847914G>A , CM000673.2:g.2847914G>A GRCh38
NC_000011.9:g.2869144G>A , CM000673.1:g.2869144G>A GRCh37
NC_000011.8:g.2825720G>A NCBI36
NG_008935.1:g.407924G>A , LRG_287:g.407924G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1585G>A (KCNQ1) ENSP00000434560.2:p.Val529Ile
ENST00000155840.12:c.1942G>A (KCNQ1) MANE Select ENSP00000155840.2:p.Val648Ile
ENST00000335475.6:c.1561G>A (KCNQ1) ENSP00000334497.5:p.Val521Ile
ENST00000526095.2:c.346G>A (KCNQ1) ENSP00000494939.1:p.Val116Ile
ENST00000155840.9:c.1942G>A (KCNQ1) ENSP00000155840.2:p.Val648Ile
ENST00000335475.5:c.1561G>A (KCNQ1) ENSP00000334497.5:p.Val521Ile
ENST00000526095.1:n.449G>A (KCNQ1)
NM_000218.2:c.1942G>A , LRG_287t1:c.1942G>A (KCNQ1) NP_000209.2:p.Val648Ile
NM_181798.1:c.1561G>A , LRG_287t2:c.1561G>A (KCNQ1) NP_861463.1:p.Val521Ile
NR_130721.1:n.778-7472C>T (KCNQ1-AS1)
NM_000218.3:c.1942G>A (KCNQ1) MANE Select NP_000209.2:p.Val648Ile
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