Canonical Allele Identifier: CA16606224

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 381320
• ClinVar RCV Id: RCV000425060
• dbSNP Id: rs1057521015
• COSMIC: COSM3446442 ; COSM3446443
• MyVariant Identifiers: chr11:g.2593264C>T (hg19) ; chr11:g.2572034C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572034C>T , CM000673.2:g.2572034C>T	GRCh38
NC_000011.9:g.2593264C>T , CM000673.1:g.2593264C>T	GRCh37
NC_000011.8:g.2549840C>T	NCBI36
NG_008935.1:g.132044C>T , LRG_287:g.132044C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.444C>T	ENSP00000434560.2:p.Ile148=
ENST00000646564.2:c.478-11401C>T	ENSP00000495806.2:n.478-11401C>T
ENST00000155840.12:c.705C>T MANE Select	ENSP00000155840.2:p.Ile235=
ENST00000335475.6:c.324C>T	ENSP00000334497.5:p.Ile108=
ENST00000646564.1:c.124-11401C>T	ENSP00000495806.1:n.124-11401C>T
ENST00000155840.9:c.705C>T	ENSP00000155840.2:p.Ile235=
ENST00000335475.5:c.324C>T	ENSP00000334497.5:p.Ile108=
ENST00000496887.6:c.444C>T	ENSP00000434560.1:p.Ile148=
NM_000218.2:c.705C>T , LRG_287t1:c.705C>T	NP_000209.2:p.Ile235=
NM_181798.1:c.324C>T , LRG_287t2:c.324C>T	NP_861463.1:p.Ile108=
NM_000218.3:c.705C>T MANE Select	NP_000209.2:p.Ile235=