Canonical Allele Identifier: CA036650

Gene: KCNQ1

Linked Data

• dbSNP Id: rs572093524
• ExAC: 11:2549125 C / T
• gnomAD v2: 11-2549125-C-T
• gnomAD v3: 11-2527895-C-T
• gnomAD v4: 11-2527895-C-T
• MyVariant Identifiers: chr11:g.2549125C>T (hg19) ; chr11:g.2527895C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527895C>T , CM000673.2:g.2527895C>T	GRCh38
NC_000011.9:g.2549125C>T , CM000673.1:g.2549125C>T	GRCh37
NC_000011.8:g.2505701C>T	NCBI36
NG_008935.1:g.87905C>T , LRG_287:g.87905C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380776.5:n.184-33C>T
ENST00000496887.7:c.126-33C>T	ENSP00000434560.2:n.126-33C>T
ENST00000646564.2:c.387-33C>T	ENSP00000495806.2:n.387-33C>T
ENST00000155840.12:c.387-33C>T MANE Select	ENSP00000155840.2:n.387-33C>T
ENST00000335475.6:c.6-33C>T	ENSP00000334497.5:n.6-33C>T
ENST00000646564.1:c.33-33C>T	ENSP00000495806.1:n.33-33C>T
ENST00000155840.9:c.387-33C>T	ENSP00000155840.2:n.387-33C>T
ENST00000335475.5:c.6-33C>T	ENSP00000334497.5:n.6-33C>T
ENST00000345015.4:n.256-33C>T
ENST00000380776.4:c.177-33C>T	ENSP00000370153.4:n.177-33C>T
ENST00000496887.6:c.126-33C>T	ENSP00000434560.1:n.126-33C>T
NM_000218.2:c.387-33C>T , LRG_287t1:c.387-33C>T	NP_000209.2:n.387-33C>T
NM_181798.1:c.6-33C>T , LRG_287t2:c.6-33C>T	NP_861463.1:n.6-33C>T
NM_000218.3:c.387-33C>T MANE Select	NP_000209.2:n.387-33C>T