Canonical Allele Identifier: CA472416185
Gene: KCNQ1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.2466565T>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445335T>A , CM000673.2:g.2445335T>A GRCh38
NC_000011.9:g.2466565T>A , CM000673.1:g.2466565T>A GRCh37
NC_000011.8:g.2423141T>A NCBI36
NG_008935.1:g.5345T>A , LRG_287:g.5345T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-48T>A ENSP00000434560.2:n.24-48T>A
ENST00000646564.2:c.237T>A ENSP00000495806.2:p.Leu79=
ENST00000155840.12:c.237T>A MANE Select ENSP00000155840.2:p.Leu79=
ENST00000155840.9:c.237T>A ENSP00000155840.2:p.Leu79=
ENST00000345015.4:n.14T>A
ENST00000496887.6:c.24-48T>A ENSP00000434560.1:n.24-48T>A
NM_000218.2:c.237T>A , LRG_287t1:c.237T>A NP_000209.2:p.Leu79=
NM_000218.3:c.237T>A MANE Select NP_000209.2:p.Leu79=
Search 100 bp 5'
Search 100 bp 3'