Canonical Allele Identifier: CA005023

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200835
• ClinVar RCV Id: RCV000182162 ; RCV003532028
• dbSNP Id: rs794728523
• gnomAD v2: 11-2606440-A-C
• MyVariant Identifiers: chr11:g.2606440A>C (hg19) ; chr11:g.2585210A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585210A>C , CM000673.2:g.2585210A>C	GRCh38
NC_000011.9:g.2606440A>C , CM000673.1:g.2606440A>C	GRCh37
NC_000011.8:g.2563016A>C	NCBI36
NG_008935.1:g.145220A>C , LRG_287:g.145220A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1665A>C	ENSP00000434560.2:n.771+1665A>C
ENST00000646564.2:c.588+1665A>C	ENSP00000495806.2:n.588+1665A>C
ENST00000155840.12:c.1033-2A>C MANE Select	ENSP00000155840.2:n.1033-2A>C
ENST00000335475.6:c.652-2A>C	ENSP00000334497.5:n.652-2A>C
ENST00000646564.1:c.234+1665A>C	ENSP00000495806.1:n.234+1665A>C
ENST00000155840.9:c.1033-2A>C	ENSP00000155840.2:n.1033-2A>C
ENST00000335475.5:c.652-2A>C	ENSP00000334497.5:n.652-2A>C
NM_000218.2:c.1033-2A>C , LRG_287t1:c.1033-2A>C	NP_000209.2:n.1033-2A>C
NM_181798.1:c.652-2A>C , LRG_287t2:c.652-2A>C	NP_861463.1:n.652-2A>C
NM_000218.3:c.1033-2A>C MANE Select	NP_000209.2:n.1033-2A>C