Canonical Allele Identifier: CA1948349704
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847945C= , CM000673.2:g.2847945C= GRCh38
NC_000011.9:g.2869175C= , CM000673.1:g.2869175C= GRCh37
NC_000011.8:g.2825751C= NCBI36
NG_008935.1:g.407955C= , LRG_287:g.407955C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1616C= (KCNQ1) ENSP00000434560.2:p.Thr539=
ENST00000155840.12:c.1973C= (KCNQ1) MANE Select ENSP00000155840.2:p.Thr658=
ENST00000335475.6:c.1592C= (KCNQ1) ENSP00000334497.5:p.Thr531=
ENST00000526095.2:c.377C= (KCNQ1) ENSP00000494939.1:p.Thr126=
ENST00000155840.9:c.1973C= (KCNQ1) ENSP00000155840.2:p.Thr658=
ENST00000335475.5:c.1592C= (KCNQ1) ENSP00000334497.5:p.Thr531=
ENST00000526095.1:n.480C= (KCNQ1)
NM_000218.2:c.1973C= , LRG_287t1:c.1973C= (KCNQ1) NP_000209.2:p.Thr658=
NM_181798.1:c.1592C= , LRG_287t2:c.1592C= (KCNQ1) NP_861463.1:p.Thr531=
NR_130721.1:n.778-7503G= (KCNQ1-AS1)
NM_000218.3:c.1973C= (KCNQ1) MANE Select NP_000209.2:p.Thr658=