Canonical Allele Identifier: CA007542

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 3117
• ClinVar RCV Id: RCV000003264 ; RCV000046088 ; RCV000057706 ; RCV000182086 ; RCV000588393 ; RCV001841223
• dbSNP Id: rs120074178
• gnomAD v2: 11-2591949-G-A
• gnomAD v3: 11-2570719-G-A
• gnomAD v4: 11-2570719-G-A
• MyVariant Identifiers: chr11:g.2591949G>A (hg19) ; chr11:g.2591949_2591954delinsAGCTGC (hg19) ; chr11:g.2570719G>A (hg38)
• PubMed: PMID:8528244 ; PMID:9386136 ; PMID:9693036 ; PMID:10376919 ; PMID:10728423 ; PMID:11668638 ; PMID:12522251 ; PMID:14678125 ; PMID:15051636 ; PMID:15840476 ; PMID:16414944 ; PMID:17470695 ; PMID:19716085 ; PMID:19841300 ; PMID:20660394 ; PMID:21350584 ; PMID:22456477 ; PMID:22581653 ; PMID:22629021 ; PMID:22949429 ; PMID:23075154 ; PMID:27041150 ; PMID:27311732 ; PMID:27470144 ; PMID:27485560

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570719G>A , CM000673.2:g.2570719G>A	GRCh38
NC_000011.9:g.2591949G>A , CM000673.1:g.2591949G>A	GRCh37
NC_000011.8:g.2548525G>A	NCBI36
NG_008935.1:g.130729G>A , LRG_287:g.130729G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.308G>A	ENSP00000434560.2:p.Arg103Gln
ENST00000646564.2:c.478-12716G>A	ENSP00000495806.2:n.478-12716G>A
ENST00000155840.12:c.569G>A MANE Select	ENSP00000155840.2:p.Arg190Gln
ENST00000335475.6:c.188G>A	ENSP00000334497.5:p.Arg63Gln
ENST00000646564.1:c.124-12716G>A	ENSP00000495806.1:n.124-12716G>A
ENST00000155840.9:c.569G>A	ENSP00000155840.2:p.Arg190Gln
ENST00000335475.5:c.188G>A	ENSP00000334497.5:p.Arg63Gln
ENST00000496887.6:c.308G>A	ENSP00000434560.1:p.Arg103Gln
NM_000218.2:c.569G>A , LRG_287t1:c.569G>A	NP_000209.2:p.Arg190Gln
NM_181798.1:c.188G>A , LRG_287t2:c.188G>A	NP_861463.1:p.Arg63Gln
NM_000218.3:c.569G>A MANE Select	NP_000209.2:p.Arg190Gln