Canonical Allele Identifier: CA1948336760
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2822939_2822940delinsAT , CM000673.2:g.2822939_2822940delinsAT GRCh38
NC_000011.9:g.2844169_2844170delinsAT , CM000673.1:g.2844169_2844170delinsAT GRCh37
NC_000011.8:g.2800745_2800746delinsAT NCBI36
NG_008935.1:g.382949_382950delinsAT , LRG_287:g.382949_382950delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1438-24828_1438-24827delinsAT ENSP00000434560.2:n.1438-24828_1438-24827delinsAT
ENST00000646564.2:c.1255-16777_1255-16776delinsAT ENSP00000495806.2:n.1255-16777_1255-16776delinsAT
ENST00000155840.12:c.1795-24828_1795-24827delinsAT MANE Select ENSP00000155840.2:n.1795-24828_1795-24827delinsAT
ENST00000335475.6:c.1414-24828_1414-24827delinsAT ENSP00000334497.5:n.1414-24828_1414-24827delinsAT
ENST00000526095.2:c.199-24828_199-24827delinsAT ENSP00000494939.1:n.199-24828_199-24827delinsAT
ENST00000646564.1:c.901-16777_901-16776delinsAT ENSP00000495806.1:n.901-16777_901-16776delinsAT
ENST00000155840.9:c.1795-24828_1795-24827delinsAT ENSP00000155840.2:n.1795-24828_1795-24827delinsAT
ENST00000335475.5:c.1414-24828_1414-24827delinsAT ENSP00000334497.5:n.1414-24828_1414-24827delinsAT
ENST00000526095.1:n.302-24828_302-24827delinsAT
NM_000218.2:c.1795-24828_1795-24827delinsAT , LRG_287t1:c.1795-24828_1795-24827delinsAT NP_000209.2:n.1795-24828_1795-24827delinsAT
NM_181798.1:c.1414-24828_1414-24827delinsAT , LRG_287t2:c.1414-24828_1414-24827delinsAT NP_861463.1:n.1414-24828_1414-24827delinsAT
NM_000218.3:c.1795-24828_1795-24827delinsAT MANE Select NP_000209.2:n.1795-24828_1795-24827delinsAT