Canonical Allele Identifier: CA216345450

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• dbSNP Id: rs762122463
• gnomAD v4: 11-2847992-G-T
• MyVariant Identifiers: chr11:g.2869222G>T (hg19) ; chr11:g.2847992G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847992G>T , CM000673.2:g.2847992G>T	GRCh38
NC_000011.9:g.2869222G>T , CM000673.1:g.2869222G>T	GRCh37
NC_000011.8:g.2825798G>T	NCBI36
NG_008935.1:g.408002G>T , LRG_287:g.408002G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1663G>T (KCNQ1)	ENSP00000434560.2:p.Glu555Ter
ENST00000155840.12:c.2020G>T (KCNQ1) MANE Select	ENSP00000155840.2:p.Glu674Ter
ENST00000335475.6:c.1639G>T (KCNQ1)	ENSP00000334497.5:p.Glu547Ter
ENST00000526095.2:c.424G>T (KCNQ1)	ENSP00000494939.1:p.Glu142Ter
ENST00000155840.9:c.2020G>T (KCNQ1)	ENSP00000155840.2:p.Glu674Ter
ENST00000335475.5:c.1639G>T (KCNQ1)	ENSP00000334497.5:p.Glu547Ter
ENST00000526095.1:n.527G>T (KCNQ1)
NM_000218.2:c.2020G>T , LRG_287t1:c.2020G>T (KCNQ1)	NP_000209.2:p.Glu674Ter
NM_181798.1:c.1639G>T , LRG_287t2:c.1639G>T (KCNQ1)	NP_861463.1:p.Glu547Ter
NR_130721.1:n.778-7550C>A (KCNQ1-AS1)
NM_000218.3:c.2020G>T (KCNQ1) MANE Select	NP_000209.2:p.Glu674Ter