Canonical Allele Identifier: CA379479824

Gene: KCNQ1 KCNQ1OT1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1147C>T (KCNQ1)	ENSP00000434560.2:p.His383Tyr
ENST00000646564.2:c.964C>T (KCNQ1)	ENSP00000495806.2:p.His322Tyr
ENST00000155840.12:c.1504C>T (KCNQ1) MANE Select	ENSP00000155840.2:p.His502Tyr
ENST00000335475.6:c.1123C>T (KCNQ1)	ENSP00000334497.5:p.His375Tyr
ENST00000646564.1:c.610C>T (KCNQ1)	ENSP00000495806.1:p.His204Tyr
ENST00000155840.9:c.1504C>T (KCNQ1)	ENSP00000155840.2:p.His502Tyr
ENST00000335475.5:c.1123C>T (KCNQ1)	ENSP00000334497.5:p.His375Tyr
NM_000218.2:c.1504C>T , LRG_287t1:c.1504C>T (KCNQ1)	NP_000209.2:p.His502Tyr
NM_181798.1:c.1123C>T , LRG_287t2:c.1123C>T (KCNQ1)	NP_861463.1:p.His375Tyr
NR_002728.3:n.37928G>A (KCNQ1OT1)
NM_000218.3:c.1504C>T (KCNQ1) MANE Select	NP_000209.2:p.His502Tyr