Canonical Allele Identifier: CA005847

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200850
• ClinVar RCV Id: RCV000182193 ; RCV000825591
• dbSNP Id: rs794728530
• MyVariant Identifiers: chr11:g.2790081G>T (hg19) ; chr11:g.2768851G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768851G>T , CM000673.2:g.2768851G>T	GRCh38
NC_000011.9:g.2790081G>T , CM000673.1:g.2790081G>T	GRCh37
NC_000011.8:g.2746657G>T	NCBI36
NG_008935.1:g.328861G>T , LRG_287:g.328861G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1165G>T	ENSP00000434560.2:p.Glu389Ter
ENST00000646564.2:c.982G>T	ENSP00000495806.2:p.Glu328Ter
ENST00000155840.12:c.1522G>T MANE Select	ENSP00000155840.2:p.Glu508Ter
ENST00000335475.6:c.1141G>T	ENSP00000334497.5:p.Glu381Ter
ENST00000646564.1:c.628G>T	ENSP00000495806.1:p.Glu210Ter
ENST00000155840.9:c.1522G>T	ENSP00000155840.2:p.Glu508Ter
ENST00000335475.5:c.1141G>T	ENSP00000334497.5:p.Glu381Ter
NM_000218.2:c.1522G>T , LRG_287t1:c.1522G>T	NP_000209.2:p.Glu508Ter
NM_181798.1:c.1141G>T , LRG_287t2:c.1141G>T	NP_861463.1:p.Glu381Ter
NM_000218.3:c.1522G>T MANE Select	NP_000209.2:p.Glu508Ter