Canonical Allele Identifier: CA1948349586
Community Standard Title: NM_000218.3(KCNQ1):c.1801C= (p.Gln601=)
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847773C= , CM000673.2:g.2847773C= GRCh38
NC_000011.9:g.2869003C= , CM000673.1:g.2869003C= GRCh37
NC_000011.8:g.2825579C= NCBI36
NG_008935.1:g.407783C= , LRG_287:g.407783C=

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.1801C= (KCNQ1) MANE Select NP_000209.2:p.Gln601=
ENST00000155840.12:c.1801C= (KCNQ1) MANE Select ENSP00000155840.2:p.Gln601=
NM_000218.2:c.1801C= , LRG_287t1:c.1801C= (KCNQ1) NP_000209.2:p.Gln601=
NM_181798.1:c.1420C= , LRG_287t2:c.1420C= (KCNQ1) NP_861463.1:p.Gln474=
NR_130721.1:n.778-7331G= (KCNQ1-AS1)
ENST00000155840.9:c.1801C= (KCNQ1) ENSP00000155840.2:p.Gln601=
ENST00000335475.5:c.1420C= (KCNQ1) ENSP00000334497.5:p.Gln474=
ENST00000335475.6:c.1420C= (KCNQ1) ENSP00000334497.5:p.Gln474=
ENST00000496887.7:c.1444C= (KCNQ1) ENSP00000434560.2:p.Gln482=
ENST00000526095.1:n.308C= (KCNQ1)
ENST00000526095.2:c.205C= (KCNQ1) ENSP00000494939.1:p.Gln69=