Canonical Allele Identifier: CA379116812

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2445322-T-C
• COSMIC: COSM6425966
• MyVariant Identifiers: chr11:g.2466552T>C (hg19) ; chr11:g.2445322T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445322T>C , CM000673.2:g.2445322T>C	GRCh38
NC_000011.9:g.2466552T>C , CM000673.1:g.2466552T>C	GRCh37
NC_000011.8:g.2423128T>C	NCBI36
NG_008935.1:g.5332T>C , LRG_287:g.5332T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.24-61T>C	ENSP00000434560.2:n.24-61T>C
ENST00000646564.2:c.224T>C	ENSP00000495806.2:p.Val75Ala
ENST00000155840.12:c.224T>C MANE Select	ENSP00000155840.2:p.Val75Ala
ENST00000155840.9:c.224T>C	ENSP00000155840.2:p.Val75Ala
ENST00000345015.4:n.1T>C
ENST00000496887.6:c.24-61T>C	ENSP00000434560.1:n.24-61T>C
NM_000218.2:c.224T>C , LRG_287t1:c.224T>C	NP_000209.2:p.Val75Ala
NM_000218.3:c.224T>C MANE Select	NP_000209.2:p.Val75Ala