Canonical Allele Identifier: CA004997

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52938
• ClinVar RCV Id: RCV000577113
• dbSNP Id: rs397508071
• MyVariant Identifiers: chr11:g.2604780G>A (hg19) ; chr11:g.2583550G>A (hg38)
• PubMed: PMID:19841300

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583550G>A , CM000673.2:g.2583550G>A	GRCh38
NC_000011.9:g.2604780G>A , CM000673.1:g.2604780G>A	GRCh37
NC_000011.8:g.2561356G>A	NCBI36
NG_008935.1:g.143560G>A , LRG_287:g.143560G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.771+5G>A	ENSP00000434560.2:n.771+5G>A
ENST00000646564.2:c.588+5G>A	ENSP00000495806.2:n.588+5G>A
ENST00000155840.12:c.1032+5G>A MANE Select	ENSP00000155840.2:n.1032+5G>A
ENST00000335475.6:c.651+5G>A	ENSP00000334497.5:n.651+5G>A
ENST00000646564.1:c.234+5G>A	ENSP00000495806.1:n.234+5G>A
ENST00000155840.9:c.1032+5G>A	ENSP00000155840.2:n.1032+5G>A
ENST00000335475.5:c.651+5G>A	ENSP00000334497.5:n.651+5G>A
NM_000218.2:c.1032+5G>A , LRG_287t1:c.1032+5G>A	NP_000209.2:n.1032+5G>A
NM_181798.1:c.651+5G>A , LRG_287t2:c.651+5G>A	NP_861463.1:n.651+5G>A
NM_000218.3:c.1032+5G>A MANE Select	NP_000209.2:n.1032+5G>A