Canonical Allele Identifier: CA026839

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1290998
• ClinVar RCV Id: RCV002538656 ; RCV003591886
• dbSNP Id: rs200423553
• ExAC: 11:2606430 A / C
• gnomAD v2: 11-2606430-A-C
• gnomAD v4: 11-2585200-A-C
• MyVariant Identifiers: chr11:g.2606430A>C (hg19) ; chr11:g.2585200A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585200A>C , CM000673.2:g.2585200A>C	GRCh38
NC_000011.9:g.2606430A>C , CM000673.1:g.2606430A>C	GRCh37
NC_000011.8:g.2563006A>C	NCBI36
NG_008935.1:g.145210A>C , LRG_287:g.145210A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.771+1655A>C	ENSP00000434560.2:n.771+1655A>C
ENST00000646564.2:c.588+1655A>C	ENSP00000495806.2:n.588+1655A>C
ENST00000155840.12:c.1033-12A>C MANE Select	ENSP00000155840.2:n.1033-12A>C
ENST00000335475.6:c.652-12A>C	ENSP00000334497.5:n.652-12A>C
ENST00000646564.1:c.234+1655A>C	ENSP00000495806.1:n.234+1655A>C
ENST00000155840.9:c.1033-12A>C	ENSP00000155840.2:n.1033-12A>C
ENST00000335475.5:c.652-12A>C	ENSP00000334497.5:n.652-12A>C
NM_000218.2:c.1033-12A>C , LRG_287t1:c.1033-12A>C	NP_000209.2:n.1033-12A>C
NM_181798.1:c.652-12A>C , LRG_287t2:c.652-12A>C	NP_861463.1:n.652-12A>C
NM_000218.3:c.1033-12A>C MANE Select	NP_000209.2:n.1033-12A>C