Canonical Allele Identifier: CA033288
Community Standard Title: NM_000218.3(KCNQ1):c.1830C>T (p.Thr610=)
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847802C>T , CM000673.2:g.2847802C>T GRCh38
NC_000011.9:g.2869032C>T , CM000673.1:g.2869032C>T GRCh37
NC_000011.8:g.2825608C>T NCBI36
NG_008935.1:g.407812C>T , LRG_287:g.407812C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.1830C>T (KCNQ1) MANE Select NP_000209.2:p.Thr610=
ENST00000155840.12:c.1830C>T (KCNQ1) MANE Select ENSP00000155840.2:p.Thr610=
NM_000218.2:c.1830C>T , LRG_287t1:c.1830C>T (KCNQ1) NP_000209.2:p.Thr610=
NM_181798.1:c.1449C>T , LRG_287t2:c.1449C>T (KCNQ1) NP_861463.1:p.Thr483=
NR_130721.1:n.778-7360G>A (KCNQ1-AS1)
ENST00000155840.9:c.1830C>T (KCNQ1) ENSP00000155840.2:p.Thr610=
ENST00000335475.5:c.1449C>T (KCNQ1) ENSP00000334497.5:p.Thr483=
ENST00000335475.6:c.1449C>T (KCNQ1) ENSP00000334497.5:p.Thr483=
ENST00000496887.7:c.1473C>T (KCNQ1) ENSP00000434560.2:p.Thr491=
ENST00000526095.1:n.337C>T (KCNQ1)
ENST00000526095.2:c.234C>T (KCNQ1) ENSP00000494939.1:p.Thr78=