Canonical Allele Identifier: CA379115613
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444699G>T , CM000673.2:g.2444699G>T GRCh38
NC_000011.9:g.2465929G>T , CM000673.1:g.2465929G>T GRCh37
NC_000011.8:g.2422505G>T NCBI36
NG_008935.1:g.4709G>T , LRG_287:g.4709G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.14G>T ENSP00000434560.2:p.Gly5Val
ENST00000496887.6:c.14G>T ENSP00000434560.1:p.Gly5Val