Canonical Allele Identifier: CA379131083

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1491804
• ClinVar RCV Id: RCV002010166
• dbSNP Id: rs2133730726
• MyVariant Identifiers: chr11:g.2593329T>G (hg19) ; chr11:g.2572099T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572099T>G , CM000673.2:g.2572099T>G	GRCh38
NC_000011.9:g.2593329T>G , CM000673.1:g.2593329T>G	GRCh37
NC_000011.8:g.2549905T>G	NCBI36
NG_008935.1:g.132109T>G , LRG_287:g.132109T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.509T>G	ENSP00000434560.2:p.Ile170Ser
ENST00000646564.2:c.478-11336T>G	ENSP00000495806.2:n.478-11336T>G
ENST00000155840.12:c.770T>G MANE Select	ENSP00000155840.2:p.Ile257Ser
ENST00000335475.6:c.389T>G	ENSP00000334497.5:p.Ile130Ser
ENST00000646564.1:c.124-11336T>G	ENSP00000495806.1:n.124-11336T>G
ENST00000155840.9:c.770T>G	ENSP00000155840.2:p.Ile257Ser
ENST00000335475.5:c.389T>G	ENSP00000334497.5:p.Ile130Ser
ENST00000496887.6:c.509T>G	ENSP00000434560.1:p.Ile170Ser
NM_000218.2:c.770T>G , LRG_287t1:c.770T>G	NP_000209.2:p.Ile257Ser
NM_181798.1:c.389T>G , LRG_287t2:c.389T>G	NP_861463.1:p.Ile130Ser
NM_000218.3:c.770T>G MANE Select	NP_000209.2:p.Ile257Ser