Canonical Allele Identifier: CA379115640
Gene: KCNQ1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.2465938G>A (hg19) chr11:g.2444708G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444708G>A , CM000673.2:g.2444708G>A GRCh38
NC_000011.9:g.2465938G>A , CM000673.1:g.2465938G>A GRCh37
NC_000011.8:g.2422514G>A NCBI36
NG_008935.1:g.4718G>A , LRG_287:g.4718G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23G>A ENSP00000434560.2:p.Ser8Asn
ENST00000496887.6:c.23G>A ENSP00000434560.1:p.Ser8Asn
Search 100 bp 5'
Search 100 bp 3'