Canonical Allele Identifier: CA918805900
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1564906262

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2823090_2823091del , CM000673.2:g.2823090_2823091del GRCh38
NC_000011.9:g.2844320_2844321del , CM000673.1:g.2844320_2844321del GRCh37
NC_000011.8:g.2800896_2800897del NCBI36
NG_008935.1:g.383100_383101del , LRG_287:g.383100_383101del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1438-24677_1438-24676del ENSP00000434560.2:n.1438-24677_1438-24676del
ENST00000646564.2:c.1255-16626_1255-16625del ENSP00000495806.2:n.1255-16626_1255-16625del
ENST00000155840.12:c.1795-24677_1795-24676del MANE Select ENSP00000155840.2:n.1795-24677_1795-24676del
ENST00000335475.6:c.1414-24677_1414-24676del ENSP00000334497.5:n.1414-24677_1414-24676del
ENST00000526095.2:c.199-24677_199-24676del ENSP00000494939.1:n.199-24677_199-24676del
ENST00000646564.1:c.901-16626_901-16625del ENSP00000495806.1:n.901-16626_901-16625del
ENST00000155840.9:c.1795-24677_1795-24676del ENSP00000155840.2:n.1795-24677_1795-24676del
ENST00000335475.5:c.1414-24677_1414-24676del ENSP00000334497.5:n.1414-24677_1414-24676del
ENST00000526095.1:n.302-24677_302-24676del
NM_000218.2:c.1795-24677_1795-24676del , LRG_287t1:c.1795-24677_1795-24676del NP_000209.2:n.1795-24677_1795-24676del
NM_181798.1:c.1414-24677_1414-24676del , LRG_287t2:c.1414-24677_1414-24676del NP_861463.1:n.1414-24677_1414-24676del
NM_000218.3:c.1795-24677_1795-24676del MANE Select NP_000209.2:n.1795-24677_1795-24676del