Canonical Allele Identifier: CA379116873

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1902541
• ClinVar RCV Id: RCV002580358
• gnomAD v4: 11-2445333-C-T
• MyVariant Identifiers: chr11:g.2466563C>T (hg19) ; chr11:g.2445333C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445333C>T , CM000673.2:g.2445333C>T	GRCh38
NC_000011.9:g.2466563C>T , CM000673.1:g.2466563C>T	GRCh37
NC_000011.8:g.2423139C>T	NCBI36
NG_008935.1:g.5343C>T , LRG_287:g.5343C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.24-50C>T	ENSP00000434560.2:n.24-50C>T
ENST00000646564.2:c.235C>T	ENSP00000495806.2:p.Leu79Phe
ENST00000155840.12:c.235C>T MANE Select	ENSP00000155840.2:p.Leu79Phe
ENST00000155840.9:c.235C>T	ENSP00000155840.2:p.Leu79Phe
ENST00000345015.4:n.12C>T
ENST00000496887.6:c.24-50C>T	ENSP00000434560.1:n.24-50C>T
NM_000218.2:c.235C>T , LRG_287t1:c.235C>T	NP_000209.2:p.Leu79Phe
NM_000218.3:c.235C>T MANE Select	NP_000209.2:p.Leu79Phe