Canonical Allele Identifier: CA379117582

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1408323106
• gnomAD v2: 11-2466668-C-T
• gnomAD v4: 11-2445438-C-T
• MyVariant Identifiers: chr11:g.2466668C>T (hg19) ; chr11:g.2445438C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445438C>T , CM000673.2:g.2445438C>T	GRCh38
NC_000011.9:g.2466668C>T , CM000673.1:g.2466668C>T	GRCh37
NC_000011.8:g.2423244C>T	NCBI36
NG_008935.1:g.5448C>T , LRG_287:g.5448C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.79C>T	ENSP00000434560.2:p.Leu27Phe
ENST00000646564.2:c.340C>T	ENSP00000495806.2:p.Leu114Phe
ENST00000155840.12:c.340C>T MANE Select	ENSP00000155840.2:p.Leu114Phe
ENST00000155840.9:c.340C>T	ENSP00000155840.2:p.Leu114Phe
ENST00000345015.4:n.117C>T
ENST00000496887.6:c.79C>T	ENSP00000434560.1:p.Leu27Phe
NM_000218.2:c.340C>T , LRG_287t1:c.340C>T	NP_000209.2:p.Leu114Phe
NM_000218.3:c.340C>T MANE Select	NP_000209.2:p.Leu114Phe