Canonical Allele Identifier: CA005213

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200901
• ClinVar RCV Id: RCV000631591 ; RCV000619144
• dbSNP Id: rs794728571
• gnomAD v4: 11-2585260-C-T
• MyVariant Identifiers: chr11:g.2606490C>T (hg19) ; chr11:g.2585260C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585260C>T , CM000673.2:g.2585260C>T	GRCh38
NC_000011.9:g.2606490C>T , CM000673.1:g.2606490C>T	GRCh37
NC_000011.8:g.2563066C>T	NCBI36
NG_008935.1:g.145270C>T , LRG_287:g.145270C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1715C>T	ENSP00000434560.2:n.771+1715C>T
ENST00000646564.2:c.588+1715C>T	ENSP00000495806.2:n.588+1715C>T
ENST00000155840.12:c.1081C>T MANE Select	ENSP00000155840.2:p.Gln361Ter
ENST00000335475.6:c.700C>T	ENSP00000334497.5:p.Gln234Ter
ENST00000646564.1:c.234+1715C>T	ENSP00000495806.1:n.234+1715C>T
ENST00000155840.9:c.1081C>T	ENSP00000155840.2:p.Gln361Ter
ENST00000335475.5:c.700C>T	ENSP00000334497.5:p.Gln234Ter
NM_000218.2:c.1081C>T , LRG_287t1:c.1081C>T	NP_000209.2:p.Gln361Ter
NM_181798.1:c.700C>T , LRG_287t2:c.700C>T	NP_861463.1:p.Gln234Ter
NM_000218.3:c.1081C>T MANE Select	NP_000209.2:p.Gln361Ter