Canonical Allele Identifier: CA472236304

Gene: KCNQ1 KCNQ1OT1

Linked Data

• gnomAD v4: 11-2662038-C-T
• MyVariant Identifiers: chr11:g.2683268C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662038C>T , CM000673.2:g.2662038C>T	GRCh38
NC_000011.9:g.2683268C>T , CM000673.1:g.2683268C>T	GRCh37
NC_000011.8:g.2639844C>T	NCBI36
NG_008935.1:g.222048C>T , LRG_287:g.222048C>T
NG_016178.2:g.42961G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1114C>T (KCNQ1)	ENSP00000434560.2:p.Leu372=
ENST00000646564.2:c.931C>T (KCNQ1)	ENSP00000495806.2:p.Leu311=
ENST00000155840.12:c.1471C>T (KCNQ1) MANE Select	ENSP00000155840.2:p.Leu491=
ENST00000335475.6:c.1090C>T (KCNQ1)	ENSP00000334497.5:p.Leu364=
ENST00000646564.1:c.577C>T (KCNQ1)	ENSP00000495806.1:p.Leu193=
ENST00000155840.9:c.1471C>T (KCNQ1)	ENSP00000155840.2:p.Leu491=
ENST00000335475.5:c.1090C>T (KCNQ1)	ENSP00000334497.5:p.Leu364=
NM_000218.2:c.1471C>T , LRG_287t1:c.1471C>T (KCNQ1)	NP_000209.2:p.Leu491=
NM_181798.1:c.1090C>T , LRG_287t2:c.1090C>T (KCNQ1)	NP_861463.1:p.Leu364=
NR_002728.3:n.37961G>A (KCNQ1OT1)
NM_000218.3:c.1471C>T (KCNQ1) MANE Select	NP_000209.2:p.Leu491=