Canonical Allele Identifier: CA472236321

Gene: KCNQ1 KCNQ1OT1

Linked Data

• MyVariant Identifiers: chr11:g.2683288G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662058G>C , CM000673.2:g.2662058G>C	GRCh38
NC_000011.9:g.2683288G>C , CM000673.1:g.2683288G>C	GRCh37
NC_000011.8:g.2639864G>C	NCBI36
NG_008935.1:g.222068G>C , LRG_287:g.222068G>C
NG_016178.2:g.42941C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1134G>C (KCNQ1)	ENSP00000434560.2:p.Leu378=
ENST00000646564.2:c.951G>C (KCNQ1)	ENSP00000495806.2:p.Leu317=
ENST00000155840.12:c.1491G>C (KCNQ1) MANE Select	ENSP00000155840.2:p.Leu497=
ENST00000335475.6:c.1110G>C (KCNQ1)	ENSP00000334497.5:p.Leu370=
ENST00000646564.1:c.597G>C (KCNQ1)	ENSP00000495806.1:p.Leu199=
ENST00000155840.9:c.1491G>C (KCNQ1)	ENSP00000155840.2:p.Leu497=
ENST00000335475.5:c.1110G>C (KCNQ1)	ENSP00000334497.5:p.Leu370=
NM_000218.2:c.1491G>C , LRG_287t1:c.1491G>C (KCNQ1)	NP_000209.2:p.Leu497=
NM_181798.1:c.1110G>C , LRG_287t2:c.1110G>C (KCNQ1)	NP_861463.1:p.Leu370=
NR_002728.3:n.37941C>G (KCNQ1OT1)
NM_000218.3:c.1491G>C (KCNQ1) MANE Select	NP_000209.2:p.Leu497=