Canonical Allele Identifier: CA030451

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 3021653
• ClinVar RCV Id: RCV003880236
• dbSNP Id: rs752108333
• ExAC: 11:2790058 C / T
• gnomAD v2: 11-2790058-C-T
• gnomAD v4: 11-2768828-C-T
• MyVariant Identifiers: chr11:g.2790058C>T (hg19) ; chr11:g.2768828C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768828C>T , CM000673.2:g.2768828C>T	GRCh38
NC_000011.9:g.2790058C>T , CM000673.1:g.2790058C>T	GRCh37
NC_000011.8:g.2746634C>T	NCBI36
NG_008935.1:g.328838C>T , LRG_287:g.328838C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1158-16C>T	ENSP00000434560.2:n.1158-16C>T
ENST00000646564.2:c.975-16C>T	ENSP00000495806.2:n.975-16C>T
ENST00000155840.12:c.1515-16C>T MANE Select	ENSP00000155840.2:n.1515-16C>T
ENST00000335475.6:c.1134-16C>T	ENSP00000334497.5:n.1134-16C>T
ENST00000646564.1:c.621-16C>T	ENSP00000495806.1:n.621-16C>T
ENST00000155840.9:c.1515-16C>T	ENSP00000155840.2:n.1515-16C>T
ENST00000335475.5:c.1134-16C>T	ENSP00000334497.5:n.1134-16C>T
NM_000218.2:c.1515-16C>T , LRG_287t1:c.1515-16C>T	NP_000209.2:n.1515-16C>T
NM_181798.1:c.1134-16C>T , LRG_287t2:c.1134-16C>T	NP_861463.1:n.1134-16C>T
NM_000218.3:c.1515-16C>T MANE Select	NP_000209.2:n.1515-16C>T