Canonical Allele Identifier: CA2612008566

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2775915-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2775919del , CM000673.2:g.2775919del	GRCh38
NC_000011.9:g.2797149del , CM000673.1:g.2797149del	GRCh37
NC_000011.8:g.2753725del	NCBI36
NG_008935.1:g.335929del , LRG_287:g.335929del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1234-41del	ENSP00000434560.2:n.1234-41del
ENST00000646564.2:c.1051-41del	ENSP00000495806.2:n.1051-41del
ENST00000155840.12:c.1591-41del MANE Select	ENSP00000155840.2:n.1591-41del
ENST00000335475.6:c.1210-41del	ENSP00000334497.5:n.1210-41del
ENST00000646564.1:c.697-41del	ENSP00000495806.1:n.697-41del
ENST00000155840.9:c.1591-41del	ENSP00000155840.2:n.1591-41del
ENST00000335475.5:c.1210-41del	ENSP00000334497.5:n.1210-41del
NM_000218.2:c.1591-41del , LRG_287t1:c.1591-41del	NP_000209.2:n.1591-41del
NM_181798.1:c.1210-41del , LRG_287t2:c.1210-41del	NP_861463.1:n.1210-41del
NM_000218.3:c.1591-41del MANE Select	NP_000209.2:n.1591-41del