Canonical Allele Identifier: CA006736

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 163732
• ClinVar RCV Id: RCV000150862 ; RCV000458474 ; RCV000618148 ; RCV003129790 ; RCV004544353
• dbSNP Id: rs367817352
• ExAC: 11:2466553 T / C
• gnomAD v2: 11-2466553-T-C
• gnomAD v3: 11-2445323-T-C
• gnomAD v4: 11-2445323-T-C
• MyVariant Identifiers: chr11:g.2466553T>C (hg19) ; chr11:g.2445323T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445323T>C , CM000673.2:g.2445323T>C	GRCh38
NC_000011.9:g.2466553T>C , CM000673.1:g.2466553T>C	GRCh37
NC_000011.8:g.2423129T>C	NCBI36
NG_008935.1:g.5333T>C , LRG_287:g.5333T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.24-60T>C	ENSP00000434560.2:n.24-60T>C
ENST00000646564.2:c.225T>C	ENSP00000495806.2:p.Val75=
ENST00000155840.12:c.225T>C MANE Select	ENSP00000155840.2:p.Val75=
ENST00000155840.9:c.225T>C	ENSP00000155840.2:p.Val75=
ENST00000345015.4:n.2T>C
ENST00000496887.6:c.24-60T>C	ENSP00000434560.1:n.24-60T>C
NM_000218.2:c.225T>C , LRG_287t1:c.225T>C	NP_000209.2:p.Val75=
NM_000218.3:c.225T>C MANE Select	NP_000209.2:p.Val75=