Canonical Allele Identifier: CA379479819

Gene: KCNQ1 KCNQ1OT1

Linked Data

• MyVariant Identifiers: chr11:g.2683301C>A (hg19) ; chr11:g.2662071C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662071C>A , CM000673.2:g.2662071C>A	GRCh38
NC_000011.9:g.2683301C>A , CM000673.1:g.2683301C>A	GRCh37
NC_000011.8:g.2639877C>A	NCBI36
NG_008935.1:g.222081C>A , LRG_287:g.222081C>A
NG_016178.2:g.42928G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1147C>A (KCNQ1)	ENSP00000434560.2:p.His383Asn
ENST00000646564.2:c.964C>A (KCNQ1)	ENSP00000495806.2:p.His322Asn
ENST00000155840.12:c.1504C>A (KCNQ1) MANE Select	ENSP00000155840.2:p.His502Asn
ENST00000335475.6:c.1123C>A (KCNQ1)	ENSP00000334497.5:p.His375Asn
ENST00000646564.1:c.610C>A (KCNQ1)	ENSP00000495806.1:p.His204Asn
ENST00000155840.9:c.1504C>A (KCNQ1)	ENSP00000155840.2:p.His502Asn
ENST00000335475.5:c.1123C>A (KCNQ1)	ENSP00000334497.5:p.His375Asn
NM_000218.2:c.1504C>A , LRG_287t1:c.1504C>A (KCNQ1)	NP_000209.2:p.His502Asn
NM_181798.1:c.1123C>A , LRG_287t2:c.1123C>A (KCNQ1)	NP_861463.1:p.His375Asn
NR_002728.3:n.37928G>T (KCNQ1OT1)
NM_000218.3:c.1504C>A (KCNQ1) MANE Select	NP_000209.2:p.His502Asn