Canonical Allele Identifier: CA379115625
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444704A>T , CM000673.2:g.2444704A>T GRCh38
NC_000011.9:g.2465934A>T , CM000673.1:g.2465934A>T GRCh37
NC_000011.8:g.2422510A>T NCBI36
NG_008935.1:g.4714A>T , LRG_287:g.4714A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.19A>T ENSP00000434560.2:p.Ser7Cys
ENST00000496887.6:c.19A>T ENSP00000434560.1:p.Ser7Cys