Canonical Allele Identifier: CA379140590

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• dbSNP Id: rs1226404635
• gnomAD v2: 11-2869199-C-T
• gnomAD v4: 11-2847969-C-T
• MyVariant Identifiers: chr11:g.2869199C>T (hg19) ; chr11:g.2847969C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847969C>T , CM000673.2:g.2847969C>T	GRCh38
NC_000011.9:g.2869199C>T , CM000673.1:g.2869199C>T	GRCh37
NC_000011.8:g.2825775C>T	NCBI36
NG_008935.1:g.407979C>T , LRG_287:g.407979C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1640C>T (KCNQ1)	ENSP00000434560.2:p.Thr547Ile
ENST00000155840.12:c.1997C>T (KCNQ1) MANE Select	ENSP00000155840.2:p.Thr666Ile
ENST00000335475.6:c.1616C>T (KCNQ1)	ENSP00000334497.5:p.Thr539Ile
ENST00000526095.2:c.401C>T (KCNQ1)	ENSP00000494939.1:p.Thr134Ile
ENST00000155840.9:c.1997C>T (KCNQ1)	ENSP00000155840.2:p.Thr666Ile
ENST00000335475.5:c.1616C>T (KCNQ1)	ENSP00000334497.5:p.Thr539Ile
ENST00000526095.1:n.504C>T (KCNQ1)
NM_000218.2:c.1997C>T , LRG_287t1:c.1997C>T (KCNQ1)	NP_000209.2:p.Thr666Ile
NM_181798.1:c.1616C>T , LRG_287t2:c.1616C>T (KCNQ1)	NP_861463.1:p.Thr539Ile
NR_130721.1:n.778-7527G>A (KCNQ1-AS1)
NM_000218.3:c.1997C>T (KCNQ1) MANE Select	NP_000209.2:p.Thr666Ile