Canonical Allele Identifier: CA008428

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53115
• ClinVar RCV Id: RCV000046141 ; RCV000057774 ; RCV000182308
• dbSNP Id: rs199472730
• MyVariant Identifiers: chr11:g.2594125C>G (hg19) ; chr11:g.2572895C>G (hg38)
• PubMed: PMID:16414944 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572895C>G , CM000673.2:g.2572895C>G	GRCh38
NC_000011.9:g.2594125C>G , CM000673.1:g.2594125C>G	GRCh37
NC_000011.8:g.2550701C>G	NCBI36
NG_008935.1:g.132905C>G , LRG_287:g.132905C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.569C>G	ENSP00000434560.2:p.Ser190Trp
ENST00000646564.2:c.478-10540C>G	ENSP00000495806.2:n.478-10540C>G
ENST00000155840.12:c.830C>G MANE Select	ENSP00000155840.2:p.Ser277Trp
ENST00000335475.6:c.449C>G	ENSP00000334497.5:p.Ser150Trp
ENST00000646564.1:c.124-10540C>G	ENSP00000495806.1:n.124-10540C>G
ENST00000155840.9:c.830C>G	ENSP00000155840.2:p.Ser277Trp
ENST00000335475.5:c.449C>G	ENSP00000334497.5:p.Ser150Trp
ENST00000496887.6:c.569C>G	ENSP00000434560.1:p.Ser190Trp
NM_000218.2:c.830C>G , LRG_287t1:c.830C>G	NP_000209.2:p.Ser277Trp
NM_181798.1:c.449C>G , LRG_287t2:c.449C>G	NP_861463.1:p.Ser150Trp
NM_000218.3:c.830C>G MANE Select	NP_000209.2:p.Ser277Trp