Canonical Allele Identifier: CA2611999529
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2445006-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445006G>T , CM000673.2:g.2445006G>T GRCh38
NC_000011.9:g.2466236G>T , CM000673.1:g.2466236G>T GRCh37
NC_000011.8:g.2422812G>T NCBI36
NG_008935.1:g.5016G>T , LRG_287:g.5016G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.23+298G>T ENSP00000434560.2:n.23+298G>T
ENST00000155840.9:c.-93G>T ENSP00000155840.2:n.-93G>T
ENST00000496887.6:c.23+298G>T ENSP00000434560.1:n.23+298G>T
NM_000218.2:c.-93G>T , LRG_287t1:c.-93G>T NP_000209.2:n.-93G>T