Canonical Allele Identifier: CA379132953

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2583436-T-C
• MyVariant Identifiers: chr11:g.2604666T>C (hg19) ; chr11:g.2583436T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583436T>C , CM000673.2:g.2583436T>C	GRCh38
NC_000011.9:g.2604666T>C , CM000673.1:g.2604666T>C	GRCh37
NC_000011.8:g.2561242T>C	NCBI36
NG_008935.1:g.143446T>C , LRG_287:g.143446T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.662T>C	ENSP00000434560.2:p.Val221Ala
ENST00000646564.2:c.479T>C	ENSP00000495806.2:p.Val160Ala
ENST00000155840.12:c.923T>C MANE Select	ENSP00000155840.2:p.Val308Ala
ENST00000335475.6:c.542T>C	ENSP00000334497.5:p.Val181Ala
ENST00000646564.1:c.125T>C	ENSP00000495806.1:p.Val42Ala
ENST00000155840.9:c.923T>C	ENSP00000155840.2:p.Val308Ala
ENST00000335475.5:c.542T>C	ENSP00000334497.5:p.Val181Ala
NM_000218.2:c.923T>C , LRG_287t1:c.923T>C	NP_000209.2:p.Val308Ala
NM_181798.1:c.542T>C , LRG_287t2:c.542T>C	NP_861463.1:p.Val181Ala
NM_000218.3:c.923T>C MANE Select	NP_000209.2:p.Val308Ala