Canonical Allele Identifier: CA379139771

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1044816
• ClinVar RCV Id: RCV001349126 ; RCV002404826
• dbSNP Id: rs1421636319
• gnomAD v4: 11-2778022-C-G
• MyVariant Identifiers: chr11:g.2799252C>G (hg19) ; chr11:g.2778022C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778022C>G , CM000673.2:g.2778022C>G	GRCh38
NC_000011.9:g.2799252C>G , CM000673.1:g.2799252C>G	GRCh37
NC_000011.8:g.2755828C>G	NCBI36
NG_008935.1:g.338032C>G , LRG_287:g.338032C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1422C>G	ENSP00000434560.2:p.Asn474Lys
ENST00000646564.2:c.1239C>G	ENSP00000495806.2:p.Asn413Lys
ENST00000155840.12:c.1779C>G MANE Select	ENSP00000155840.2:p.Asn593Lys
ENST00000335475.6:c.1398C>G	ENSP00000334497.5:p.Asn466Lys
ENST00000526095.2:c.183C>G	ENSP00000494939.1:p.Asn61Lys
ENST00000646564.1:c.885C>G	ENSP00000495806.1:p.Asn295Lys
ENST00000155840.9:c.1779C>G	ENSP00000155840.2:p.Asn593Lys
ENST00000335475.5:c.1398C>G	ENSP00000334497.5:p.Asn466Lys
ENST00000526095.1:n.286C>G
NM_000218.2:c.1779C>G , LRG_287t1:c.1779C>G	NP_000209.2:p.Asn593Lys
NM_181798.1:c.1398C>G , LRG_287t2:c.1398C>G	NP_861463.1:p.Asn466Lys
NM_000218.3:c.1779C>G MANE Select	NP_000209.2:p.Asn593Lys