Canonical Allele Identifier: CA379139818

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2799265A>T (hg19) ; chr11:g.2778035A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778035A>T , CM000673.2:g.2778035A>T	GRCh38
NC_000011.9:g.2799265A>T , CM000673.1:g.2799265A>T	GRCh37
NC_000011.8:g.2755841A>T	NCBI36
NG_008935.1:g.338045A>T , LRG_287:g.338045A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1435A>T	ENSP00000434560.2:p.Lys479Ter
ENST00000646564.2:c.1252A>T	ENSP00000495806.2:p.Lys418Ter
ENST00000155840.12:c.1792A>T MANE Select	ENSP00000155840.2:p.Lys598Ter
ENST00000335475.6:c.1411A>T	ENSP00000334497.5:p.Lys471Ter
ENST00000526095.2:c.196A>T	ENSP00000494939.1:p.Lys66Ter
ENST00000646564.1:c.898A>T	ENSP00000495806.1:p.Lys300Ter
ENST00000155840.9:c.1792A>T	ENSP00000155840.2:p.Lys598Ter
ENST00000335475.5:c.1411A>T	ENSP00000334497.5:p.Lys471Ter
ENST00000526095.1:n.299A>T
NM_000218.2:c.1792A>T , LRG_287t1:c.1792A>T	NP_000209.2:p.Lys598Ter
NM_181798.1:c.1411A>T , LRG_287t2:c.1411A>T	NP_861463.1:p.Lys471Ter
NM_000218.3:c.1792A>T MANE Select	NP_000209.2:p.Lys598Ter