Canonical Allele Identifier: CA1948314049

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1846689998
• gnomAD v4: 11-2776009-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776012del , CM000673.2:g.2776012del	GRCh38
NC_000011.9:g.2797242del , CM000673.1:g.2797242del	GRCh37
NC_000011.8:g.2753818del	NCBI36
NG_008935.1:g.336022del , LRG_287:g.336022del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1286del	ENSP00000434560.2:p.Gly429AlafsTer?
ENST00000646564.2:c.1103del	ENSP00000495806.2:p.Gly368AlafsTer?
ENST00000155840.12:c.1643del MANE Select	ENSP00000155840.2:p.Gly548AlafsTer?
ENST00000335475.6:c.1262del	ENSP00000334497.5:p.Gly421AlafsTer?
ENST00000646564.1:c.749del	ENSP00000495806.1:p.Gly250AlafsTer?
ENST00000155840.9:c.1643del	ENSP00000155840.2:p.Gly548AlafsTer?
ENST00000335475.5:c.1262del	ENSP00000334497.5:p.Gly421AlafsTer?
NM_000218.2:c.1643del , LRG_287t1:c.1643del	NP_000209.2:p.Gly548AlafsTer?
NM_181798.1:c.1262del , LRG_287t2:c.1262del	NP_861463.1:p.Gly421AlafsTer?
NM_000218.3:c.1643del MANE Select	NP_000209.2:p.Gly548AlafsTer?