Canonical Allele Identifier: CA472416261

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1442231737
• gnomAD v3: 11-2445440-C-T
• gnomAD v4: 11-2445440-C-T
• MyVariant Identifiers: chr11:g.2466670C>T (hg19) ; chr11:g.2445440C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445440C>T , CM000673.2:g.2445440C>T	GRCh38
NC_000011.9:g.2466670C>T , CM000673.1:g.2466670C>T	GRCh37
NC_000011.8:g.2423246C>T	NCBI36
NG_008935.1:g.5450C>T , LRG_287:g.5450C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.81C>T	ENSP00000434560.2:p.Leu27=
ENST00000646564.2:c.342C>T	ENSP00000495806.2:p.Leu114=
ENST00000155840.12:c.342C>T MANE Select	ENSP00000155840.2:p.Leu114=
ENST00000155840.9:c.342C>T	ENSP00000155840.2:p.Leu114=
ENST00000345015.4:n.119C>T
ENST00000496887.6:c.81C>T	ENSP00000434560.1:p.Leu27=
NM_000218.2:c.342C>T , LRG_287t1:c.342C>T	NP_000209.2:p.Leu114=
NM_000218.3:c.342C>T MANE Select	NP_000209.2:p.Leu114=