Canonical Allele Identifier: CA2580615602

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2575071
• ClinVar RCV Id: RCV003319968

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585256_2585267del , CM000673.2:g.2585256_2585267del	GRCh38
NC_000011.9:g.2606486_2606497del , CM000673.1:g.2606486_2606497del	GRCh37
NC_000011.8:g.2563062_2563073del	NCBI36
NG_008935.1:g.145266_145277del , LRG_287:g.145266_145277del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.771+1711_771+1722del	ENSP00000434560.2:n.771+1711_771+1722del
ENST00000646564.2:c.588+1711_588+1722del	ENSP00000495806.2:n.588+1711_588+1722del
ENST00000155840.12:c.1077_1088del MANE Select	ENSP00000155840.2:p.Gln359_Lys362del
ENST00000335475.6:c.696_707del	ENSP00000334497.5:p.Gln232_Lys235del
ENST00000646564.1:c.234+1711_234+1722del	ENSP00000495806.1:n.234+1711_234+1722del
ENST00000155840.9:c.1077_1088del	ENSP00000155840.2:p.Gln359_Lys362del
ENST00000335475.5:c.696_707del	ENSP00000334497.5:p.Gln232_Lys235del
NM_000218.2:c.1077_1088del , LRG_287t1:c.1077_1088del	NP_000209.2:p.Gln359_Lys362del
NM_181798.1:c.696_707del , LRG_287t2:c.696_707del	NP_861463.1:p.Gln232_Lys235del
NM_000218.3:c.1077_1088del MANE Select	NP_000209.2:p.Gln359_Lys362del