Canonical Allele Identifier: CA2790193718
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444907A>C , CM000673.2:g.2444907A>C GRCh38
NC_000011.9:g.2466137A>C , CM000673.1:g.2466137A>C GRCh37
NC_000011.8:g.2422713A>C NCBI36
NG_008935.1:g.4917A>C , LRG_287:g.4917A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+199A>C ENSP00000434560.2:n.23+199A>C
ENST00000496887.6:c.23+199A>C ENSP00000434560.1:n.23+199A>C