Canonical Allele Identifier: CA15704097
Gene: KCNQ1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs2074238

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2463573T>C , CM000673.2:g.2463573T>C GRCh38
NC_000011.9:g.2484803T>C , CM000673.1:g.2484803T>C GRCh37
NC_000011.8:g.2441379T>C NCBI36
NG_008935.1:g.23583T>C , LRG_287:g.23583T>C

Transcript Alleles

HGVS Amino-acid change
NM_000218.2:c.386+18089T>C , LRG_287t1:c.386+18089T>C NP_000209.2:p.=
NM_181798.1:c.5+1859T>C , LRG_287t2:c.5+1859T>C NP_861463.1:p.=
ENST00000155840.9:c.386+18089T>C ENSP00000155840.2:p.=
ENST00000335475.5:c.5+1859T>C ENSP00000334497.5:p.=
ENST00000345015.4:n.163+18089T>C
ENST00000380776.4:c.84+1596T>C ENSP00000370153.4:p.=
ENST00000496887.6:c.125+18089T>C ENSP00000434560.1:p.=