Canonical Allele Identifier: CA379479521

Gene: KCNQ1 KCNQ1OT1

Linked Data

• ClinVar Variation Id: 2127548
• ClinVar RCV Id: RCV003055554
• MyVariant Identifiers: chr11:g.2683234C>G (hg19) ; chr11:g.2662004C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662004C>G , CM000673.2:g.2662004C>G	GRCh38
NC_000011.9:g.2683234C>G , CM000673.1:g.2683234C>G	GRCh37
NC_000011.8:g.2639810C>G	NCBI36
NG_008935.1:g.222014C>G , LRG_287:g.222014C>G
NG_016178.2:g.42995G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1080C>G (KCNQ1)	ENSP00000434560.2:p.Phe360Leu
ENST00000646564.2:c.897C>G (KCNQ1)	ENSP00000495806.2:p.Phe299Leu
ENST00000155840.12:c.1437C>G (KCNQ1) MANE Select	ENSP00000155840.2:p.Phe479Leu
ENST00000335475.6:c.1056C>G (KCNQ1)	ENSP00000334497.5:p.Phe352Leu
ENST00000646564.1:c.543C>G (KCNQ1)	ENSP00000495806.1:p.Phe181Leu
ENST00000155840.9:c.1437C>G (KCNQ1)	ENSP00000155840.2:p.Phe479Leu
ENST00000335475.5:c.1056C>G (KCNQ1)	ENSP00000334497.5:p.Phe352Leu
NM_000218.2:c.1437C>G , LRG_287t1:c.1437C>G (KCNQ1)	NP_000209.2:p.Phe479Leu
NM_181798.1:c.1056C>G , LRG_287t2:c.1056C>G (KCNQ1)	NP_861463.1:p.Phe352Leu
NR_002728.3:n.37995G>C (KCNQ1OT1)
NM_000218.3:c.1437C>G (KCNQ1) MANE Select	NP_000209.2:p.Phe479Leu