Canonical Allele Identifier: CA216309228
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs187358307

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570610_2570611insAAGGC , CM000673.2:g.2570610_2570611insAAGGC GRCh38
NC_000011.9:g.2591840_2591841insAAGGC , CM000673.1:g.2591840_2591841insAAGGC GRCh37
NC_000011.8:g.2548416_2548417insAAGGC NCBI36
NG_008935.1:g.130620_130621insAAGGC , LRG_287:g.130620_130621insAAGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.217-18_217-17insAAGGC ENSP00000434560.2:n.217-18_217-17insAAGGC
ENST00000646564.2:c.478-12825_478-12824insAAGGC ENSP00000495806.2:n.478-12825_478-12824insAAGGC
ENST00000155840.12:c.478-18_478-17insAAGGC MANE Select ENSP00000155840.2:n.478-18_478-17insAAGGC
ENST00000335475.6:c.97-18_97-17insAAGGC ENSP00000334497.5:n.97-18_97-17insAAGGC
ENST00000646564.1:c.124-12825_124-12824insAAGGC ENSP00000495806.1:n.124-12825_124-12824insAAGGC
ENST00000155840.9:c.478-18_478-17insAAGGC ENSP00000155840.2:n.478-18_478-17insAAGGC
ENST00000335475.5:c.97-18_97-17insAAGGC ENSP00000334497.5:n.97-18_97-17insAAGGC
ENST00000496887.6:c.217-18_217-17insAAGGC ENSP00000434560.1:n.217-18_217-17insAAGGC
NM_000218.2:c.478-18_478-17insAAGGC , LRG_287t1:c.478-18_478-17insAAGGC NP_000209.2:n.478-18_478-17insAAGGC
NM_181798.1:c.97-18_97-17insAAGGC , LRG_287t2:c.97-18_97-17insAAGGC NP_861463.1:n.97-18_97-17insAAGGC
NM_000218.3:c.478-18_478-17insAAGGC MANE Select NP_000209.2:n.478-18_478-17insAAGGC