Canonical Allele Identifier: CA006170

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200851
• ClinVar RCV Id: RCV000182194 ; RCV000537287 ; RCV000678937 ; RCV002399649
• dbSNP Id: rs794728531
• gnomAD v4: 11-2776055-G-A
• MyVariant Identifiers: chr11:g.2797285G>A (hg19) ; chr11:g.2776055G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776055G>A , CM000673.2:g.2776055G>A	GRCh38
NC_000011.9:g.2797285G>A , CM000673.1:g.2797285G>A	GRCh37
NC_000011.8:g.2753861G>A	NCBI36
NG_008935.1:g.336065G>A , LRG_287:g.336065G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1328+1G>A	ENSP00000434560.2:n.1328+1G>A
ENST00000646564.2:c.1145+1G>A	ENSP00000495806.2:n.1145+1G>A
ENST00000155840.12:c.1685+1G>A MANE Select	ENSP00000155840.2:n.1685+1G>A
ENST00000335475.6:c.1304+1G>A	ENSP00000334497.5:n.1304+1G>A
ENST00000646564.1:c.791+1G>A	ENSP00000495806.1:n.791+1G>A
ENST00000155840.9:c.1685+1G>A	ENSP00000155840.2:n.1685+1G>A
ENST00000335475.5:c.1304+1G>A	ENSP00000334497.5:n.1304+1G>A
NM_000218.2:c.1685+1G>A , LRG_287t1:c.1685+1G>A	NP_000209.2:n.1685+1G>A
NM_181798.1:c.1304+1G>A , LRG_287t2:c.1304+1G>A	NP_861463.1:n.1304+1G>A
NM_000218.3:c.1685+1G>A MANE Select	NP_000209.2:n.1685+1G>A