Canonical Allele Identifier: CA216320403

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 841742
• ClinVar RCV Id: RCV001044028 ; RCV003307836 ; RCV003591832
• dbSNP Id: rs867549263
• gnomAD v2: 11-2797194-C-T
• gnomAD v4: 11-2775964-C-T
• MyVariant Identifiers: chr11:g.2797194C>T (hg19) ; chr11:g.2775964C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2775964C>T , CM000673.2:g.2775964C>T	GRCh38
NC_000011.9:g.2797194C>T , CM000673.1:g.2797194C>T	GRCh37
NC_000011.8:g.2753770C>T	NCBI36
NG_008935.1:g.335974C>T , LRG_287:g.335974C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1238C>T	ENSP00000434560.2:p.Ala413Val
ENST00000646564.2:c.1055C>T	ENSP00000495806.2:p.Ala352Val
ENST00000155840.12:c.1595C>T MANE Select	ENSP00000155840.2:p.Ala532Val
ENST00000335475.6:c.1214C>T	ENSP00000334497.5:p.Ala405Val
ENST00000646564.1:c.701C>T	ENSP00000495806.1:p.Ala234Val
ENST00000155840.9:c.1595C>T	ENSP00000155840.2:p.Ala532Val
ENST00000335475.5:c.1214C>T	ENSP00000334497.5:p.Ala405Val
NM_000218.2:c.1595C>T , LRG_287t1:c.1595C>T	NP_000209.2:p.Ala532Val
NM_181798.1:c.1214C>T , LRG_287t2:c.1214C>T	NP_861463.1:p.Ala405Val
NM_000218.3:c.1595C>T MANE Select	NP_000209.2:p.Ala532Val