Canonical Allele Identifier: CA658658028

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 448975
• ClinVar RCV Id: RCV000520192
• dbSNP Id: rs1554920580
• MyVariant Identifiers: chr11:g.2797209_2797213dup (hg19) ; chr11:g.2775979_2775983dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2775979_2775983dup , CM000673.2:g.2775979_2775983dup	GRCh38
NC_000011.9:g.2797209_2797213dup , CM000673.1:g.2797209_2797213dup	GRCh37
NC_000011.8:g.2753785_2753789dup	NCBI36
NG_008935.1:g.335989_335993dup , LRG_287:g.335989_335993dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1253_1257dup	ENSP00000434560.2:p.Arg420MetfsTer?
ENST00000646564.2:c.1070_1074dup	ENSP00000495806.2:p.Arg359MetfsTer?
ENST00000155840.12:c.1610_1614dup MANE Select	ENSP00000155840.2:p.Arg539MetfsTer?
ENST00000335475.6:c.1229_1233dup	ENSP00000334497.5:p.Arg412MetfsTer?
ENST00000646564.1:c.716_720dup	ENSP00000495806.1:p.Arg241MetfsTer?
ENST00000155840.9:c.1610_1614dup	ENSP00000155840.2:p.Arg539MetfsTer?
ENST00000335475.5:c.1229_1233dup	ENSP00000334497.5:p.Arg412MetfsTer?
NM_000218.2:c.1610_1614dup , LRG_287t1:c.1610_1614dup	NP_000209.2:p.Arg539MetfsTer?
NM_181798.1:c.1229_1233dup , LRG_287t2:c.1229_1233dup	NP_861463.1:p.Arg412MetfsTer?
NM_000218.3:c.1610_1614dup MANE Select	NP_000209.2:p.Arg539MetfsTer?