Canonical Allele Identifier: CA379130928

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1414164
• ClinVar RCV Id: RCV001930382
• dbSNP Id: rs2133730365
• MyVariant Identifiers: chr11:g.2593259C>T (hg19) ; chr11:g.2572029C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572029C>T , CM000673.2:g.2572029C>T	GRCh38
NC_000011.9:g.2593259C>T , CM000673.1:g.2593259C>T	GRCh37
NC_000011.8:g.2549835C>T	NCBI36
NG_008935.1:g.132039C>T , LRG_287:g.132039C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.439C>T	ENSP00000434560.2:p.Gln147Ter
ENST00000646564.2:c.478-11406C>T	ENSP00000495806.2:n.478-11406C>T
ENST00000155840.12:c.700C>T MANE Select	ENSP00000155840.2:p.Gln234Ter
ENST00000335475.6:c.319C>T	ENSP00000334497.5:p.Gln107Ter
ENST00000646564.1:c.124-11406C>T	ENSP00000495806.1:n.124-11406C>T
ENST00000155840.9:c.700C>T	ENSP00000155840.2:p.Gln234Ter
ENST00000335475.5:c.319C>T	ENSP00000334497.5:p.Gln107Ter
ENST00000496887.6:c.439C>T	ENSP00000434560.1:p.Gln147Ter
NM_000218.2:c.700C>T , LRG_287t1:c.700C>T	NP_000209.2:p.Gln234Ter
NM_181798.1:c.319C>T , LRG_287t2:c.319C>T	NP_861463.1:p.Gln107Ter
NM_000218.3:c.700C>T MANE Select	NP_000209.2:p.Gln234Ter