Canonical Allele Identifier: CA349428

Gene: KCNQ1 KCNQ1OT1

Linked Data

• ClinVar Variation Id: 220039
• ClinVar RCV Id: RCV000205251
• dbSNP Id: rs753256800
• MyVariant Identifiers: chr11:g.2683253G>C (hg19) ; chr11:g.2662023G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662023G>C , CM000673.2:g.2662023G>C	GRCh38
NC_000011.9:g.2683253G>C , CM000673.1:g.2683253G>C	GRCh37
NC_000011.8:g.2639829G>C	NCBI36
NG_008935.1:g.222033G>C , LRG_287:g.222033G>C
NG_016178.2:g.42976C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1099G>C (KCNQ1)	ENSP00000434560.2:p.Ala367Pro
ENST00000646564.2:c.916G>C (KCNQ1)	ENSP00000495806.2:p.Ala306Pro
ENST00000155840.12:c.1456G>C (KCNQ1) MANE Select	ENSP00000155840.2:p.Ala486Pro
ENST00000335475.6:c.1075G>C (KCNQ1)	ENSP00000334497.5:p.Ala359Pro
ENST00000646564.1:c.562G>C (KCNQ1)	ENSP00000495806.1:p.Ala188Pro
ENST00000155840.9:c.1456G>C (KCNQ1)	ENSP00000155840.2:p.Ala486Pro
ENST00000335475.5:c.1075G>C (KCNQ1)	ENSP00000334497.5:p.Ala359Pro
NM_000218.2:c.1456G>C , LRG_287t1:c.1456G>C (KCNQ1)	NP_000209.2:p.Ala486Pro
NM_181798.1:c.1075G>C , LRG_287t2:c.1075G>C (KCNQ1)	NP_861463.1:p.Ala359Pro
NR_002728.3:n.37976C>G (KCNQ1OT1)
NM_000218.3:c.1456G>C (KCNQ1) MANE Select	NP_000209.2:p.Ala486Pro