Canonical Allele Identifier: CA1948334851
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1847669395

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2818652_2818675del , CM000673.2:g.2818652_2818675del GRCh38
NC_000011.9:g.2839882_2839905del , CM000673.1:g.2839882_2839905del GRCh37
NC_000011.8:g.2796458_2796481del NCBI36
NG_008935.1:g.378662_378685del , LRG_287:g.378662_378685del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1438-29115_1438-29092del ENSP00000434560.2:n.1438-29115_1438-29092del
ENST00000646564.2:c.1255-21064_1255-21041del ENSP00000495806.2:n.1255-21064_1255-21041del
ENST00000155840.12:c.1795-29115_1795-29092del MANE Select ENSP00000155840.2:n.1795-29115_1795-29092del
ENST00000335475.6:c.1414-29115_1414-29092del ENSP00000334497.5:n.1414-29115_1414-29092del
ENST00000526095.2:c.199-29115_199-29092del ENSP00000494939.1:n.199-29115_199-29092del
ENST00000646564.1:c.901-21064_901-21041del ENSP00000495806.1:n.901-21064_901-21041del
ENST00000155840.9:c.1795-29115_1795-29092del ENSP00000155840.2:n.1795-29115_1795-29092del
ENST00000335475.5:c.1414-29115_1414-29092del ENSP00000334497.5:n.1414-29115_1414-29092del
ENST00000526095.1:n.302-29115_302-29092del
NM_000218.2:c.1795-29115_1795-29092del , LRG_287t1:c.1795-29115_1795-29092del NP_000209.2:n.1795-29115_1795-29092del
NM_181798.1:c.1414-29115_1414-29092del , LRG_287t2:c.1414-29115_1414-29092del NP_861463.1:n.1414-29115_1414-29092del
NM_000218.3:c.1795-29115_1795-29092del MANE Select NP_000209.2:n.1795-29115_1795-29092del