Canonical Allele Identifier: CA005612

Gene: KCNQ1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588804dup , CM000673.2:g.2588804dup	GRCh38
NC_000011.9:g.2610034dup , CM000673.1:g.2610034dup	GRCh37
NC_000011.8:g.2566610dup	NCBI36
NG_008935.1:g.148814dup , LRG_287:g.148814dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.986dup	ENSP00000434560.2:p.Glu330ArgfsTer14
ENST00000646564.2:c.803dup	ENSP00000495806.2:p.Glu269ArgfsTer14
ENST00000155840.12:c.1343dup MANE Select	ENSP00000155840.2:p.Glu449ArgfsTer14
ENST00000335475.6:c.962dup	ENSP00000334497.5:p.Glu322ArgfsTer14
ENST00000646564.1:c.449dup	ENSP00000495806.1:p.Glu151ArgfsTer14
ENST00000155840.9:c.1343dup	ENSP00000155840.2:p.Glu449ArgfsTer14
ENST00000335475.5:c.962dup	ENSP00000334497.5:p.Glu322ArgfsTer14
NM_000218.2:c.1343dup , LRG_287t1:c.1343dup	NP_000209.2:p.Glu449ArgfsTer14
NM_181798.1:c.962dup , LRG_287t2:c.962dup	NP_861463.1:p.Glu322ArgfsTer14
NM_000218.3:c.1343dup MANE Select	NP_000209.2:p.Glu449ArgfsTer14