Canonical Allele Identifier: CA379116801
Gene: KCNQ1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.2466552T>A (hg19) chr11:g.2445322T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445322T>A , CM000673.2:g.2445322T>A GRCh38
NC_000011.9:g.2466552T>A , CM000673.1:g.2466552T>A GRCh37
NC_000011.8:g.2423128T>A NCBI36
NG_008935.1:g.5332T>A , LRG_287:g.5332T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-61T>A ENSP00000434560.2:n.24-61T>A
ENST00000646564.2:c.224T>A ENSP00000495806.2:p.Val75Asp
ENST00000155840.12:c.224T>A MANE Select ENSP00000155840.2:p.Val75Asp
ENST00000155840.9:c.224T>A ENSP00000155840.2:p.Val75Asp
ENST00000345015.4:n.1T>A
ENST00000496887.6:c.24-61T>A ENSP00000434560.1:n.24-61T>A
NM_000218.2:c.224T>A , LRG_287t1:c.224T>A NP_000209.2:p.Val75Asp
NM_000218.3:c.224T>A MANE Select NP_000209.2:p.Val75Asp
Search 100 bp 5'
Search 100 bp 3'