Canonical Allele Identifier: CA2612002517

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2527832-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527832G>T , CM000673.2:g.2527832G>T	GRCh38
NC_000011.9:g.2549062G>T , CM000673.1:g.2549062G>T	GRCh37
NC_000011.8:g.2505638G>T	NCBI36
NG_008935.1:g.87842G>T , LRG_287:g.87842G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380776.5:n.184-96G>T
ENST00000496887.7:c.126-96G>T	ENSP00000434560.2:n.126-96G>T
ENST00000646564.2:c.387-96G>T	ENSP00000495806.2:n.387-96G>T
ENST00000155840.12:c.387-96G>T MANE Select	ENSP00000155840.2:n.387-96G>T
ENST00000335475.6:c.6-96G>T	ENSP00000334497.5:n.6-96G>T
ENST00000646564.1:c.33-96G>T	ENSP00000495806.1:n.33-96G>T
ENST00000155840.9:c.387-96G>T	ENSP00000155840.2:n.387-96G>T
ENST00000335475.5:c.6-96G>T	ENSP00000334497.5:n.6-96G>T
ENST00000345015.4:n.256-96G>T
ENST00000380776.4:c.177-96G>T	ENSP00000370153.4:n.177-96G>T
ENST00000496887.6:c.126-96G>T	ENSP00000434560.1:n.126-96G>T
NM_000218.2:c.387-96G>T , LRG_287t1:c.387-96G>T	NP_000209.2:n.387-96G>T
NM_181798.1:c.6-96G>T , LRG_287t2:c.6-96G>T	NP_861463.1:n.6-96G>T
NM_000218.3:c.387-96G>T MANE Select	NP_000209.2:n.387-96G>T