Canonical Allele Identifier: CA039851

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2144986
• ClinVar RCV Id: RCV003071208
• dbSNP Id: rs368353076
• ExAC: 11:2593231 T / A
• gnomAD v2: 11-2593231-T-A
• gnomAD v4: 11-2572001-T-A
• MyVariant Identifiers: chr11:g.2593231T>A (hg19) ; chr11:g.2572001T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572001T>A , CM000673.2:g.2572001T>A	GRCh38
NC_000011.9:g.2593231T>A , CM000673.1:g.2593231T>A	GRCh37
NC_000011.8:g.2549807T>A	NCBI36
NG_008935.1:g.132011T>A , LRG_287:g.132011T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.423-12T>A	ENSP00000434560.2:n.423-12T>A
ENST00000646564.2:c.478-11434T>A	ENSP00000495806.2:n.478-11434T>A
ENST00000155840.12:c.684-12T>A MANE Select	ENSP00000155840.2:n.684-12T>A
ENST00000335475.6:c.303-12T>A	ENSP00000334497.5:n.303-12T>A
ENST00000646564.1:c.124-11434T>A	ENSP00000495806.1:n.124-11434T>A
ENST00000155840.9:c.684-12T>A	ENSP00000155840.2:n.684-12T>A
ENST00000335475.5:c.303-12T>A	ENSP00000334497.5:n.303-12T>A
ENST00000496887.6:c.423-12T>A	ENSP00000434560.1:n.423-12T>A
NM_000218.2:c.684-12T>A , LRG_287t1:c.684-12T>A	NP_000209.2:n.684-12T>A
NM_181798.1:c.303-12T>A , LRG_287t2:c.303-12T>A	NP_861463.1:n.303-12T>A
NM_000218.3:c.684-12T>A MANE Select	NP_000209.2:n.684-12T>A