Canonical Allele Identifier: CA2612002592

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2527899-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527899A>T , CM000673.2:g.2527899A>T	GRCh38
NC_000011.9:g.2549129A>T , CM000673.1:g.2549129A>T	GRCh37
NC_000011.8:g.2505705A>T	NCBI36
NG_008935.1:g.87909A>T , LRG_287:g.87909A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380776.5:n.184-29A>T
ENST00000496887.7:c.126-29A>T	ENSP00000434560.2:n.126-29A>T
ENST00000646564.2:c.387-29A>T	ENSP00000495806.2:n.387-29A>T
ENST00000155840.12:c.387-29A>T MANE Select	ENSP00000155840.2:n.387-29A>T
ENST00000335475.6:c.6-29A>T	ENSP00000334497.5:n.6-29A>T
ENST00000646564.1:c.33-29A>T	ENSP00000495806.1:n.33-29A>T
ENST00000155840.9:c.387-29A>T	ENSP00000155840.2:n.387-29A>T
ENST00000335475.5:c.6-29A>T	ENSP00000334497.5:n.6-29A>T
ENST00000345015.4:n.256-29A>T
ENST00000380776.4:c.177-29A>T	ENSP00000370153.4:n.177-29A>T
ENST00000496887.6:c.126-29A>T	ENSP00000434560.1:n.126-29A>T
NM_000218.2:c.387-29A>T , LRG_287t1:c.387-29A>T	NP_000209.2:n.387-29A>T
NM_181798.1:c.6-29A>T , LRG_287t2:c.6-29A>T	NP_861463.1:n.6-29A>T
NM_000218.3:c.387-29A>T MANE Select	NP_000209.2:n.387-29A>T