Canonical Allele Identifier: CA379140336

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 2773485
• ClinVar RCV Id: RCV003592310 ; RCV003779315
• dbSNP Id: rs1254125115
• gnomAD v2: 11-2869073-C-T
• gnomAD v4: 11-2847843-C-T
• MyVariant Identifiers: chr11:g.2869073C>T (hg19) ; chr11:g.2847843C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847843C>T , CM000673.2:g.2847843C>T	GRCh38
NC_000011.9:g.2869073C>T , CM000673.1:g.2869073C>T	GRCh37
NC_000011.8:g.2825649C>T	NCBI36
NG_008935.1:g.407853C>T , LRG_287:g.407853C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1514C>T (KCNQ1)	ENSP00000434560.2:p.Thr505Ile
ENST00000155840.12:c.1871C>T (KCNQ1) MANE Select	ENSP00000155840.2:p.Thr624Ile
ENST00000335475.6:c.1490C>T (KCNQ1)	ENSP00000334497.5:p.Thr497Ile
ENST00000526095.2:c.275C>T (KCNQ1)	ENSP00000494939.1:p.Thr92Ile
ENST00000155840.9:c.1871C>T (KCNQ1)	ENSP00000155840.2:p.Thr624Ile
ENST00000335475.5:c.1490C>T (KCNQ1)	ENSP00000334497.5:p.Thr497Ile
ENST00000526095.1:n.378C>T (KCNQ1)
NM_000218.2:c.1871C>T , LRG_287t1:c.1871C>T (KCNQ1)	NP_000209.2:p.Thr624Ile
NM_181798.1:c.1490C>T , LRG_287t2:c.1490C>T (KCNQ1)	NP_861463.1:p.Thr497Ile
NR_130721.1:n.778-7401G>A (KCNQ1-AS1)
NM_000218.3:c.1871C>T (KCNQ1) MANE Select	NP_000209.2:p.Thr624Ile