Canonical Allele Identifier: CA006028

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53000
• ClinVar RCV Id: RCV000046008 ; RCV000057608 ; RCV000182209 ; RCV000619557 ; RCV001807769 ; RCV001841635
• dbSNP Id: rs199473480
• gnomAD v4: 11-2776006-C-T
• MyVariant Identifiers: chr11:g.2797236C>T (hg19) ; chr11:g.2776006C>T (hg38)
• PubMed: PMID:15176425 ; PMID:15466642 ; PMID:15840476 ; PMID:17905336 ; PMID:19716085 ; PMID:19808498 ; PMID:19841300 ; PMID:21131640 ; PMID:21185501 ; PMID:22581653 ; PMID:23891399 ; PMID:25037568 ; PMID:27026747

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776006C>T , CM000673.2:g.2776006C>T	GRCh38
NC_000011.9:g.2797236C>T , CM000673.1:g.2797236C>T	GRCh37
NC_000011.8:g.2753812C>T	NCBI36
NG_008935.1:g.336016C>T , LRG_287:g.336016C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1280C>T	ENSP00000434560.2:p.Ser427Leu
ENST00000646564.2:c.1097C>T	ENSP00000495806.2:p.Ser366Leu
ENST00000155840.12:c.1637C>T MANE Select	ENSP00000155840.2:p.Ser546Leu
ENST00000335475.6:c.1256C>T	ENSP00000334497.5:p.Ser419Leu
ENST00000646564.1:c.743C>T	ENSP00000495806.1:p.Ser248Leu
ENST00000155840.9:c.1637C>T	ENSP00000155840.2:p.Ser546Leu
ENST00000335475.5:c.1256C>T	ENSP00000334497.5:p.Ser419Leu
NM_000218.2:c.1637C>T , LRG_287t1:c.1637C>T	NP_000209.2:p.Ser546Leu
NM_181798.1:c.1256C>T , LRG_287t2:c.1256C>T	NP_861463.1:p.Ser419Leu
NM_000218.3:c.1637C>T MANE Select	NP_000209.2:p.Ser546Leu