Canonical Allele Identifier: CA027096

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 629754
• ClinVar RCV Id: RCV001203576 ; RCV001574714 ; RCV001841958 ; RCV002440609 ; RCV002501006
• dbSNP Id: rs775362401
• ExAC: 11:2606518 C / T
• gnomAD v2: 11-2606518-C-T
• gnomAD v3: 11-2585288-C-T
• gnomAD v4: 11-2585288-C-T
• MyVariant Identifiers: chr11:g.2606518C>T (hg19) ; chr11:g.2585288C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585288C>T , CM000673.2:g.2585288C>T	GRCh38
NC_000011.9:g.2606518C>T , CM000673.1:g.2606518C>T	GRCh37
NC_000011.8:g.2563094C>T	NCBI36
NG_008935.1:g.145298C>T , LRG_287:g.145298C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.771+1743C>T	ENSP00000434560.2:n.771+1743C>T
ENST00000646564.2:c.588+1743C>T	ENSP00000495806.2:n.588+1743C>T
ENST00000155840.12:c.1109C>T MANE Select	ENSP00000155840.2:p.Ala370Val
ENST00000335475.6:c.728C>T	ENSP00000334497.5:p.Ala243Val
ENST00000646564.1:c.234+1743C>T	ENSP00000495806.1:n.234+1743C>T
ENST00000155840.9:c.1109C>T	ENSP00000155840.2:p.Ala370Val
ENST00000335475.5:c.728C>T	ENSP00000334497.5:p.Ala243Val
NM_000218.2:c.1109C>T , LRG_287t1:c.1109C>T	NP_000209.2:p.Ala370Val
NM_181798.1:c.728C>T , LRG_287t2:c.728C>T	NP_861463.1:p.Ala243Val
NM_000218.3:c.1109C>T MANE Select	NP_000209.2:p.Ala370Val