Canonical Allele Identifier: CA2612003168

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2571238-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571242del , CM000673.2:g.2571242del	GRCh38
NC_000011.9:g.2592472del , CM000673.1:g.2592472del	GRCh37
NC_000011.8:g.2549048del	NCBI36
NG_008935.1:g.131252del , LRG_287:g.131252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.344-83del	ENSP00000434560.2:n.344-83del
ENST00000646564.2:c.478-12193del	ENSP00000495806.2:n.478-12193del
ENST00000155840.12:c.605-83del MANE Select	ENSP00000155840.2:n.605-83del
ENST00000335475.6:c.224-83del	ENSP00000334497.5:n.224-83del
ENST00000646564.1:c.124-12193del	ENSP00000495806.1:n.124-12193del
ENST00000155840.9:c.605-83del	ENSP00000155840.2:n.605-83del
ENST00000335475.5:c.224-83del	ENSP00000334497.5:n.224-83del
ENST00000496887.6:c.344-83del	ENSP00000434560.1:n.344-83del
NM_000218.2:c.605-83del , LRG_287t1:c.605-83del	NP_000209.2:n.605-83del
NM_181798.1:c.224-83del , LRG_287t2:c.224-83del	NP_861463.1:n.224-83del
NM_000218.3:c.605-83del MANE Select	NP_000209.2:n.605-83del