Canonical Allele Identifier: CA472236230

Gene: KCNQ1 KCNQ1OT1

Linked Data

• MyVariant Identifiers: chr11:g.2683193A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2661963A>C , CM000673.2:g.2661963A>C	GRCh38
NC_000011.9:g.2683193A>C , CM000673.1:g.2683193A>C	GRCh37
NC_000011.8:g.2639769A>C	NCBI36
NG_008935.1:g.221973A>C , LRG_287:g.221973A>C
NG_016178.2:g.43036T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1039A>C (KCNQ1)	ENSP00000434560.2:p.Arg347=
ENST00000646564.2:c.856A>C (KCNQ1)	ENSP00000495806.2:p.Arg286=
ENST00000155840.12:c.1396A>C (KCNQ1) MANE Select	ENSP00000155840.2:p.Arg466=
ENST00000335475.6:c.1015A>C (KCNQ1)	ENSP00000334497.5:p.Arg339=
ENST00000646564.1:c.502A>C (KCNQ1)	ENSP00000495806.1:p.Arg168=
ENST00000155840.9:c.1396A>C (KCNQ1)	ENSP00000155840.2:p.Arg466=
ENST00000335475.5:c.1015A>C (KCNQ1)	ENSP00000334497.5:p.Arg339=
NM_000218.2:c.1396A>C , LRG_287t1:c.1396A>C (KCNQ1)	NP_000209.2:p.Arg466=
NM_181798.1:c.1015A>C , LRG_287t2:c.1015A>C (KCNQ1)	NP_861463.1:p.Arg339=
NR_002728.3:n.38036T>G (KCNQ1OT1)
NM_000218.3:c.1396A>C (KCNQ1) MANE Select	NP_000209.2:p.Arg466=