Canonical Allele Identifier: CA934463261

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1848572418
• gnomAD v3: 11-2585046-T-A
• gnomAD v4: 11-2585046-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585046T>A , CM000673.2:g.2585046T>A	GRCh38
NC_000011.9:g.2606276T>A , CM000673.1:g.2606276T>A	GRCh37
NC_000011.8:g.2562852T>A	NCBI36
NG_008935.1:g.145056T>A , LRG_287:g.145056T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.771+1501T>A	ENSP00000434560.2:n.771+1501T>A
ENST00000646564.2:c.588+1501T>A	ENSP00000495806.2:n.588+1501T>A
ENST00000155840.12:c.1033-166T>A MANE Select	ENSP00000155840.2:n.1033-166T>A
ENST00000335475.6:c.652-166T>A	ENSP00000334497.5:n.652-166T>A
ENST00000646564.1:c.234+1501T>A	ENSP00000495806.1:n.234+1501T>A
ENST00000155840.9:c.1033-166T>A	ENSP00000155840.2:n.1033-166T>A
ENST00000335475.5:c.652-166T>A	ENSP00000334497.5:n.652-166T>A
NM_000218.2:c.1033-166T>A , LRG_287t1:c.1033-166T>A	NP_000209.2:n.1033-166T>A
NM_181798.1:c.652-166T>A , LRG_287t2:c.652-166T>A	NP_861463.1:n.652-166T>A
NM_000218.3:c.1033-166T>A MANE Select	NP_000209.2:n.1033-166T>A