Canonical Allele Identifier: CA379140346

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 2973634
• ClinVar RCV Id: RCV003833208
• dbSNP Id: rs1848364102
• gnomAD v4: 11-2847849-G-T
• MyVariant Identifiers: chr11:g.2869079G>T (hg19) ; chr11:g.2847849G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847849G>T , CM000673.2:g.2847849G>T	GRCh38
NC_000011.9:g.2869079G>T , CM000673.1:g.2869079G>T	GRCh37
NC_000011.8:g.2825655G>T	NCBI36
NG_008935.1:g.407859G>T , LRG_287:g.407859G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1520G>T (KCNQ1)	ENSP00000434560.2:p.Gly507Val
ENST00000155840.12:c.1877G>T (KCNQ1) MANE Select	ENSP00000155840.2:p.Gly626Val
ENST00000335475.6:c.1496G>T (KCNQ1)	ENSP00000334497.5:p.Gly499Val
ENST00000526095.2:c.281G>T (KCNQ1)	ENSP00000494939.1:p.Gly94Val
ENST00000155840.9:c.1877G>T (KCNQ1)	ENSP00000155840.2:p.Gly626Val
ENST00000335475.5:c.1496G>T (KCNQ1)	ENSP00000334497.5:p.Gly499Val
ENST00000526095.1:n.384G>T (KCNQ1)
NM_000218.2:c.1877G>T , LRG_287t1:c.1877G>T (KCNQ1)	NP_000209.2:p.Gly626Val
NM_181798.1:c.1496G>T , LRG_287t2:c.1496G>T (KCNQ1)	NP_861463.1:p.Gly499Val
NR_130721.1:n.778-7407C>A (KCNQ1-AS1)
NM_000218.3:c.1877G>T (KCNQ1) MANE Select	NP_000209.2:p.Gly626Val