Canonical Allele Identifier: CA379139789

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2778029-G-T
• MyVariant Identifiers: chr11:g.2799259G>T (hg19) ; chr11:g.2778029G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778029G>T , CM000673.2:g.2778029G>T	GRCh38
NC_000011.9:g.2799259G>T , CM000673.1:g.2799259G>T	GRCh37
NC_000011.8:g.2755835G>T	NCBI36
NG_008935.1:g.338039G>T , LRG_287:g.338039G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1429G>T	ENSP00000434560.2:p.Glu477Ter
ENST00000646564.2:c.1246G>T	ENSP00000495806.2:p.Glu416Ter
ENST00000155840.12:c.1786G>T MANE Select	ENSP00000155840.2:p.Glu596Ter
ENST00000335475.6:c.1405G>T	ENSP00000334497.5:p.Glu469Ter
ENST00000526095.2:c.190G>T	ENSP00000494939.1:p.Glu64Ter
ENST00000646564.1:c.892G>T	ENSP00000495806.1:p.Glu298Ter
ENST00000155840.9:c.1786G>T	ENSP00000155840.2:p.Glu596Ter
ENST00000335475.5:c.1405G>T	ENSP00000334497.5:p.Glu469Ter
ENST00000526095.1:n.293G>T
NM_000218.2:c.1786G>T , LRG_287t1:c.1786G>T	NP_000209.2:p.Glu596Ter
NM_181798.1:c.1405G>T , LRG_287t2:c.1405G>T	NP_861463.1:p.Glu469Ter
NM_000218.3:c.1786G>T MANE Select	NP_000209.2:p.Glu596Ter