Canonical Allele Identifier: CA005637

Gene: KCNQ1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.986del	ENSP00000434560.2:p.Pro329GlnfsTer18
ENST00000646564.2:c.803del	ENSP00000495806.2:p.Pro268GlnfsTer18
ENST00000155840.12:c.1343del MANE Select	ENSP00000155840.2:p.Pro448GlnfsTer18
ENST00000335475.6:c.962del	ENSP00000334497.5:p.Pro321GlnfsTer18
ENST00000646564.1:c.449del	ENSP00000495806.1:p.Pro150GlnfsTer18
ENST00000155840.9:c.1343del	ENSP00000155840.2:p.Pro448GlnfsTer18
ENST00000335475.5:c.962del	ENSP00000334497.5:p.Pro321GlnfsTer18
NM_000218.2:c.1343del , LRG_287t1:c.1343del	NP_000209.2:p.Pro448GlnfsTer18
NM_181798.1:c.962del , LRG_287t2:c.962del	NP_861463.1:p.Pro321GlnfsTer18
NM_000218.3:c.1343del MANE Select	NP_000209.2:p.Pro448GlnfsTer18