Canonical Allele Identifier: CA005752

Gene: KCNQ1 KCNQ1OT1

Linked Data

• ClinVar Variation Id: 200848
• ClinVar RCV Id: RCV000182191 ; RCV000249902 ; RCV000767087
• dbSNP Id: rs794728529
• gnomAD v2: 11-2683223-A-G
• MyVariant Identifiers: chr11:g.2683223A>G (hg19) ; chr11:g.2661993A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2661993A>G , CM000673.2:g.2661993A>G	GRCh38
NC_000011.9:g.2683223A>G , CM000673.1:g.2683223A>G	GRCh37
NC_000011.8:g.2639799A>G	NCBI36
NG_008935.1:g.222003A>G , LRG_287:g.222003A>G
NG_016178.2:g.43006T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1069A>G (KCNQ1)	ENSP00000434560.2:p.Met357Val
ENST00000646564.2:c.886A>G (KCNQ1)	ENSP00000495806.2:p.Met296Val
ENST00000155840.12:c.1426A>G (KCNQ1) MANE Select	ENSP00000155840.2:p.Met476Val
ENST00000335475.6:c.1045A>G (KCNQ1)	ENSP00000334497.5:p.Met349Val
ENST00000646564.1:c.532A>G (KCNQ1)	ENSP00000495806.1:p.Met178Val
ENST00000155840.9:c.1426A>G (KCNQ1)	ENSP00000155840.2:p.Met476Val
ENST00000335475.5:c.1045A>G (KCNQ1)	ENSP00000334497.5:p.Met349Val
NM_000218.2:c.1426A>G , LRG_287t1:c.1426A>G (KCNQ1)	NP_000209.2:p.Met476Val
NM_181798.1:c.1045A>G , LRG_287t2:c.1045A>G (KCNQ1)	NP_861463.1:p.Met349Val
NR_002728.3:n.38006T>C (KCNQ1OT1)
NM_000218.3:c.1426A>G (KCNQ1) MANE Select	NP_000209.2:p.Met476Val