Canonical Allele Identifier: CA008773

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 3123
• ClinVar RCV Id: RCV000003271 ; RCV000057810 ; RCV000182137 ; RCV000852434
• dbSNP Id: rs120074184
• MyVariant Identifiers: chr11:g.2604683G>A (hg19) ; chr11:g.2583453G>A (hg38)
• PubMed: PMID:8872472 ; PMID:9386136 ; PMID:9693036 ; PMID:9799083 ; PMID:10220144 ; PMID:12566525 ; PMID:15028050 ; PMID:15051636 ; PMID:15234419 ; PMID:15840476 ; PMID:16038262 ; PMID:16922724 ; PMID:17470695 ; PMID:19348785 ; PMID:19716085 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583453G>A , CM000673.2:g.2583453G>A	GRCh38
NC_000011.9:g.2604683G>A , CM000673.1:g.2604683G>A	GRCh37
NC_000011.8:g.2561259G>A	NCBI36
NG_008935.1:g.143463G>A , LRG_287:g.143463G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.679G>A	ENSP00000434560.2:p.Gly227Ser
ENST00000646564.2:c.496G>A	ENSP00000495806.2:p.Gly166Ser
ENST00000155840.12:c.940G>A MANE Select	ENSP00000155840.2:p.Gly314Ser
ENST00000335475.6:c.559G>A	ENSP00000334497.5:p.Gly187Ser
ENST00000646564.1:c.142G>A	ENSP00000495806.1:p.Gly48Ser
ENST00000155840.9:c.940G>A	ENSP00000155840.2:p.Gly314Ser
ENST00000335475.5:c.559G>A	ENSP00000334497.5:p.Gly187Ser
NM_000218.2:c.940G>A , LRG_287t1:c.940G>A	NP_000209.2:p.Gly314Ser
NM_181798.1:c.559G>A , LRG_287t2:c.559G>A	NP_861463.1:p.Gly187Ser
NM_000218.3:c.940G>A MANE Select	NP_000209.2:p.Gly314Ser