Canonical Allele Identifier: CA2574728549
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847698del , CM000673.2:g.2847698del GRCh38
NC_000011.9:g.2868928del , CM000673.1:g.2868928del GRCh37
NC_000011.8:g.2825504del NCBI36
NG_008935.1:g.407708del , LRG_287:g.407708del

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.1438-69del (KCNQ1) ENSP00000434560.2:n.1438-69del
ENST00000155840.12:c.1795-69del (KCNQ1) MANE Select ENSP00000155840.2:n.1795-69del
ENST00000335475.6:c.1414-69del (KCNQ1) ENSP00000334497.5:n.1414-69del
ENST00000526095.2:c.199-69del (KCNQ1) ENSP00000494939.1:n.199-69del
ENST00000155840.9:c.1795-69del (KCNQ1) ENSP00000155840.2:n.1795-69del
ENST00000335475.5:c.1414-69del (KCNQ1) ENSP00000334497.5:n.1414-69del
ENST00000526095.1:n.302-69del (KCNQ1)
NM_000218.2:c.1795-69del , LRG_287t1:c.1795-69del (KCNQ1) NP_000209.2:n.1795-69del
NM_181798.1:c.1414-69del , LRG_287t2:c.1414-69del (KCNQ1) NP_861463.1:n.1414-69del
NR_130721.1:n.778-7254del (KCNQ1-AS1)
NM_000218.3:c.1795-69del (KCNQ1) MANE Select NP_000209.2:n.1795-69del
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