Canonical Allele Identifier: CA005367

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200842
• ClinVar RCV Id: RCV000182177 ; RCV000764973 ; RCV001087240 ; RCV001375390 ; RCV001842869 ; RCV003165390
• dbSNP Id: rs76735093
• ExAC: 11:2606542 G / A
• gnomAD v2: 11-2606542-G-A
• gnomAD v3: 11-2585312-G-A
• gnomAD v4: 11-2585312-G-A
• MyVariant Identifiers: chr11:g.2606542G>A (hg19) ; chr11:g.2585312G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585312G>A , CM000673.2:g.2585312G>A	GRCh38
NC_000011.9:g.2606542G>A , CM000673.1:g.2606542G>A	GRCh37
NC_000011.8:g.2563118G>A	NCBI36
NG_008935.1:g.145322G>A , LRG_287:g.145322G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1767G>A	ENSP00000434560.2:n.771+1767G>A
ENST00000646564.2:c.588+1767G>A	ENSP00000495806.2:n.588+1767G>A
ENST00000155840.12:c.1128+5G>A MANE Select	ENSP00000155840.2:n.1128+5G>A
ENST00000335475.6:c.747+5G>A	ENSP00000334497.5:n.747+5G>A
ENST00000646564.1:c.234+1767G>A	ENSP00000495806.1:n.234+1767G>A
ENST00000155840.9:c.1128+5G>A	ENSP00000155840.2:n.1128+5G>A
ENST00000335475.5:c.747+5G>A	ENSP00000334497.5:n.747+5G>A
NM_000218.2:c.1128+5G>A , LRG_287t1:c.1128+5G>A	NP_000209.2:n.1128+5G>A
NM_181798.1:c.747+5G>A , LRG_287t2:c.747+5G>A	NP_861463.1:n.747+5G>A
NM_000218.3:c.1128+5G>A MANE Select	NP_000209.2:n.1128+5G>A