Canonical Allele Identifier: CA10630688

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 304213
• ClinVar RCV Id: RCV000280671 ; RCV000314033 ; RCV000335178 ; RCV000350171 ; RCV000396424 ; RCV001612958
• dbSNP Id: rs886048160
• gnomAD v3: 11-2445061-C-T
• gnomAD v4: 11-2445061-C-T
• MyVariant Identifiers: chr11:g.2466291C>T (hg19) ; chr11:g.2445061C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445061C>T , CM000673.2:g.2445061C>T	GRCh38
NC_000011.9:g.2466291C>T , CM000673.1:g.2466291C>T	GRCh37
NC_000011.8:g.2422867C>T	NCBI36
NG_008935.1:g.5071C>T , LRG_287:g.5071C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.24-322C>T	ENSP00000434560.2:n.24-322C>T
ENST00000646564.2:c.-38C>T	ENSP00000495806.2:n.-38C>T
ENST00000155840.12:c.-38C>T MANE Select	ENSP00000155840.2:n.-38C>T
ENST00000155840.9:c.-38C>T	ENSP00000155840.2:n.-38C>T
ENST00000496887.6:c.24-322C>T	ENSP00000434560.1:n.24-322C>T
NM_000218.2:c.-38C>T , LRG_287t1:c.-38C>T	NP_000209.2:n.-38C>T
NM_000218.3:c.-38C>T MANE Select	NP_000209.2:n.-38C>T