Canonical Allele Identifier: CA379117778
Gene: KCNQ1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.2466698G>C (hg19) chr11:g.2445468G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445468G>C , CM000673.2:g.2445468G>C GRCh38
NC_000011.9:g.2466698G>C , CM000673.1:g.2466698G>C GRCh37
NC_000011.8:g.2423274G>C NCBI36
NG_008935.1:g.5478G>C , LRG_287:g.5478G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.109G>C ENSP00000434560.2:p.Val37Leu
ENST00000646564.2:c.370G>C ENSP00000495806.2:p.Val124Leu
ENST00000155840.12:c.370G>C MANE Select ENSP00000155840.2:p.Val124Leu
ENST00000646564.1:c.16G>C ENSP00000495806.1:p.Val6Leu
ENST00000155840.9:c.370G>C ENSP00000155840.2:p.Val124Leu
ENST00000345015.4:n.147G>C
ENST00000496887.6:c.109G>C ENSP00000434560.1:p.Val37Leu
NM_000218.2:c.370G>C , LRG_287t1:c.370G>C NP_000209.2:p.Val124Leu
NM_000218.3:c.370G>C MANE Select NP_000209.2:p.Val124Leu
Search 100 bp 5'
Search 100 bp 3'