Canonical Allele Identifier: CA1948159817
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444668C= , CM000673.2:g.2444668C= GRCh38
NC_000011.9:g.2465898C= , CM000673.1:g.2465898C= GRCh37
NC_000011.8:g.2422474C= NCBI36
NG_008935.1:g.4678C= , LRG_287:g.4678C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.-18C= ENSP00000434560.2:n.-18C=