Canonical Allele Identifier: CA2580082604

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2129108
• ClinVar RCV Id: RCV003040375

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583470_2583471delinsTT , CM000673.2:g.2583470_2583471delinsTT	GRCh38
NC_000011.9:g.2604700_2604701delinsTT , CM000673.1:g.2604700_2604701delinsTT	GRCh37
NC_000011.8:g.2561276_2561277delinsTT	NCBI36
NG_008935.1:g.143480_143481delinsTT , LRG_287:g.143480_143481delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.696_697delinsTT	ENSP00000434560.2:p.Pro233Ser
ENST00000646564.2:c.513_514delinsTT	ENSP00000495806.2:p.Pro172Ser
ENST00000155840.12:c.957_958delinsTT MANE Select	ENSP00000155840.2:p.Pro320Ser
ENST00000335475.6:c.576_577delinsTT	ENSP00000334497.5:p.Pro193Ser
ENST00000646564.1:c.159_160delinsTT	ENSP00000495806.1:p.Pro54Ser
ENST00000155840.9:c.957_958delinsTT	ENSP00000155840.2:p.Pro320Ser
ENST00000335475.5:c.576_577delinsTT	ENSP00000334497.5:p.Pro193Ser
NM_000218.2:c.957_958delinsTT , LRG_287t1:c.957_958delinsTT	NP_000209.2:p.Pro320Ser
NM_181798.1:c.576_577delinsTT , LRG_287t2:c.576_577delinsTT	NP_861463.1:p.Pro193Ser
NM_000218.3:c.957_958delinsTT MANE Select	NP_000209.2:p.Pro320Ser