Canonical Allele Identifier: CA027860
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 926680
ClinVar RCV Id: RCV001841083 RCV004010358
dbSNP Id: rs777546418
ExAC: 11:2608917 G / A
gnomAD v2: 11-2608917-G-A
gnomAD v3: 11-2587687-G-A
gnomAD v4: 11-2587687-G-A
MyVariant Identifiers: chr11:g.2608917G>A (hg19) chr11:g.2587687G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2587687G>A , CM000673.2:g.2587687G>A GRCh38
NC_000011.9:g.2608917G>A , CM000673.1:g.2608917G>A GRCh37
NC_000011.8:g.2565493G>A NCBI36
NG_008935.1:g.147697G>A , LRG_287:g.147697G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.889G>A ENSP00000434560.2:p.Val297Met
ENST00000646564.2:c.706G>A ENSP00000495806.2:p.Val236Met
ENST00000155840.12:c.1246G>A MANE Select ENSP00000155840.2:p.Val416Met
ENST00000335475.6:c.865G>A ENSP00000334497.5:p.Val289Met
ENST00000646564.1:c.352G>A ENSP00000495806.1:p.Val118Met
ENST00000155840.9:c.1246G>A ENSP00000155840.2:p.Val416Met
ENST00000335475.5:c.865G>A ENSP00000334497.5:p.Val289Met
NM_000218.2:c.1246G>A , LRG_287t1:c.1246G>A NP_000209.2:p.Val416Met
NM_181798.1:c.865G>A , LRG_287t2:c.865G>A NP_861463.1:p.Val289Met
NM_000218.3:c.1246G>A MANE Select NP_000209.2:p.Val416Met
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