Canonical Allele Identifier: CA005284

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200840
• ClinVar RCV Id: RCV000182174 ; RCV000767085 ; RCV001265670
• dbSNP Id: rs794728525
• MyVariant Identifiers: chr11:g.2606514C>G (hg19) ; chr11:g.2585284C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585284C>G , CM000673.2:g.2585284C>G	GRCh38
NC_000011.9:g.2606514C>G , CM000673.1:g.2606514C>G	GRCh37
NC_000011.8:g.2563090C>G	NCBI36
NG_008935.1:g.145294C>G , LRG_287:g.145294C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1739C>G	ENSP00000434560.2:n.771+1739C>G
ENST00000646564.2:c.588+1739C>G	ENSP00000495806.2:n.588+1739C>G
ENST00000155840.12:c.1105C>G MANE Select	ENSP00000155840.2:p.Pro369Ala
ENST00000335475.6:c.724C>G	ENSP00000334497.5:p.Pro242Ala
ENST00000646564.1:c.234+1739C>G	ENSP00000495806.1:n.234+1739C>G
ENST00000155840.9:c.1105C>G	ENSP00000155840.2:p.Pro369Ala
ENST00000335475.5:c.724C>G	ENSP00000334497.5:p.Pro242Ala
NM_000218.2:c.1105C>G , LRG_287t1:c.1105C>G	NP_000209.2:p.Pro369Ala
NM_181798.1:c.724C>G , LRG_287t2:c.724C>G	NP_861463.1:p.Pro242Ala
NM_000218.3:c.1105C>G MANE Select	NP_000209.2:p.Pro369Ala