Canonical Allele Identifier: CA379140326

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 2846311
• ClinVar RCV Id: RCV003648464
• gnomAD v4: 11-2847839-A-G
• MyVariant Identifiers: chr11:g.2869069A>G (hg19) ; chr11:g.2847839A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847839A>G , CM000673.2:g.2847839A>G	GRCh38
NC_000011.9:g.2869069A>G , CM000673.1:g.2869069A>G	GRCh37
NC_000011.8:g.2825645A>G	NCBI36
NG_008935.1:g.407849A>G , LRG_287:g.407849A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1510A>G (KCNQ1)	ENSP00000434560.2:p.Ser504Gly
ENST00000155840.12:c.1867A>G (KCNQ1) MANE Select	ENSP00000155840.2:p.Ser623Gly
ENST00000335475.6:c.1486A>G (KCNQ1)	ENSP00000334497.5:p.Ser496Gly
ENST00000526095.2:c.271A>G (KCNQ1)	ENSP00000494939.1:p.Ser91Gly
ENST00000155840.9:c.1867A>G (KCNQ1)	ENSP00000155840.2:p.Ser623Gly
ENST00000335475.5:c.1486A>G (KCNQ1)	ENSP00000334497.5:p.Ser496Gly
ENST00000526095.1:n.374A>G (KCNQ1)
NM_000218.2:c.1867A>G , LRG_287t1:c.1867A>G (KCNQ1)	NP_000209.2:p.Ser623Gly
NM_181798.1:c.1486A>G , LRG_287t2:c.1486A>G (KCNQ1)	NP_861463.1:p.Ser496Gly
NR_130721.1:n.778-7397T>C (KCNQ1-AS1)
NM_000218.3:c.1867A>G (KCNQ1) MANE Select	NP_000209.2:p.Ser623Gly