Canonical Allele Identifier: CA379479350

Gene: KCNQ1 KCNQ1OT1

Linked Data

• MyVariant Identifiers: chr11:g.2683198G>C (hg19) ; chr11:g.2661968G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2661968G>C , CM000673.2:g.2661968G>C	GRCh38
NC_000011.9:g.2683198G>C , CM000673.1:g.2683198G>C	GRCh37
NC_000011.8:g.2639774G>C	NCBI36
NG_008935.1:g.221978G>C , LRG_287:g.221978G>C
NG_016178.2:g.43031C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1044G>C (KCNQ1)	ENSP00000434560.2:p.Lys348Asn
ENST00000646564.2:c.861G>C (KCNQ1)	ENSP00000495806.2:p.Lys287Asn
ENST00000155840.12:c.1401G>C (KCNQ1) MANE Select	ENSP00000155840.2:p.Lys467Asn
ENST00000335475.6:c.1020G>C (KCNQ1)	ENSP00000334497.5:p.Lys340Asn
ENST00000646564.1:c.507G>C (KCNQ1)	ENSP00000495806.1:p.Lys169Asn
ENST00000155840.9:c.1401G>C (KCNQ1)	ENSP00000155840.2:p.Lys467Asn
ENST00000335475.5:c.1020G>C (KCNQ1)	ENSP00000334497.5:p.Lys340Asn
NM_000218.2:c.1401G>C , LRG_287t1:c.1401G>C (KCNQ1)	NP_000209.2:p.Lys467Asn
NM_181798.1:c.1020G>C , LRG_287t2:c.1020G>C (KCNQ1)	NP_861463.1:p.Lys340Asn
NR_002728.3:n.38031C>G (KCNQ1OT1)
NM_000218.3:c.1401G>C (KCNQ1) MANE Select	NP_000209.2:p.Lys467Asn