Canonical Allele Identifier: CA472236184

Gene: KCNQ1 KCNQ1OT1

Linked Data

• ClinVar Variation Id: 2005782
• ClinVar RCV Id: RCV002825475
• MyVariant Identifiers: chr11:g.2683179C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2661949C>T , CM000673.2:g.2661949C>T	GRCh38
NC_000011.9:g.2683179C>T , CM000673.1:g.2683179C>T	GRCh37
NC_000011.8:g.2639755C>T	NCBI36
NG_008935.1:g.221959C>T , LRG_287:g.221959C>T
NG_016178.2:g.43050G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1037-12C>T (KCNQ1)	ENSP00000434560.2:n.1037-12C>T
ENST00000646564.2:c.854-12C>T (KCNQ1)	ENSP00000495806.2:n.854-12C>T
ENST00000155840.12:c.1394-12C>T (KCNQ1) MANE Select	ENSP00000155840.2:n.1394-12C>T
ENST00000335475.6:c.1013-12C>T (KCNQ1)	ENSP00000334497.5:n.1013-12C>T
ENST00000646564.1:c.500-12C>T (KCNQ1)	ENSP00000495806.1:n.500-12C>T
ENST00000155840.9:c.1394-12C>T (KCNQ1)	ENSP00000155840.2:n.1394-12C>T
ENST00000335475.5:c.1013-12C>T (KCNQ1)	ENSP00000334497.5:n.1013-12C>T
NM_000218.2:c.1394-12C>T , LRG_287t1:c.1394-12C>T (KCNQ1)	NP_000209.2:n.1394-12C>T
NM_181798.1:c.1013-12C>T , LRG_287t2:c.1013-12C>T (KCNQ1)	NP_861463.1:n.1013-12C>T
NR_002728.3:n.38050G>A (KCNQ1OT1)
NM_000218.3:c.1394-12C>T (KCNQ1) MANE Select	NP_000209.2:n.1394-12C>T