Canonical Allele Identifier: CA379115583
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444690C>G , CM000673.2:g.2444690C>G GRCh38
NC_000011.9:g.2465920C>G , CM000673.1:g.2465920C>G GRCh37
NC_000011.8:g.2422496C>G NCBI36
NG_008935.1:g.4700C>G , LRG_287:g.4700C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.5C>G ENSP00000434560.2:p.Thr2Arg
ENST00000496887.6:c.5C>G ENSP00000434560.1:p.Thr2Arg