Canonical Allele Identifier: CA006341

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200908
• ClinVar RCV Id: RCV000182323 ; RCV003532031
• dbSNP Id: rs794728576
• MyVariant Identifiers: chr11:g.2799236T>C (hg19) ; chr11:g.2778006T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778006T>C , CM000673.2:g.2778006T>C	GRCh38
NC_000011.9:g.2799236T>C , CM000673.1:g.2799236T>C	GRCh37
NC_000011.8:g.2755812T>C	NCBI36
NG_008935.1:g.338016T>C , LRG_287:g.338016T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1406T>C	ENSP00000434560.2:p.Ile469Thr
ENST00000646564.2:c.1223T>C	ENSP00000495806.2:p.Ile408Thr
ENST00000155840.12:c.1763T>C MANE Select	ENSP00000155840.2:p.Ile588Thr
ENST00000335475.6:c.1382T>C	ENSP00000334497.5:p.Ile461Thr
ENST00000526095.2:c.167T>C	ENSP00000494939.1:p.Ile56Thr
ENST00000646564.1:c.869T>C	ENSP00000495806.1:p.Ile290Thr
ENST00000155840.9:c.1763T>C	ENSP00000155840.2:p.Ile588Thr
ENST00000335475.5:c.1382T>C	ENSP00000334497.5:p.Ile461Thr
ENST00000526095.1:n.270T>C
NM_000218.2:c.1763T>C , LRG_287t1:c.1763T>C	NP_000209.2:p.Ile588Thr
NM_181798.1:c.1382T>C , LRG_287t2:c.1382T>C	NP_861463.1:p.Ile461Thr
NM_000218.3:c.1763T>C MANE Select	NP_000209.2:p.Ile588Thr