Canonical Allele Identifier: CA379139269

Gene: KCNQ1

Linked Data

• dbSNP Id: rs764389392
• gnomAD v3: 11-2776990-G-C
• gnomAD v4: 11-2776990-G-C
• MyVariant Identifiers: chr11:g.2798220G>C (hg19) ; chr11:g.2776990G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776990G>C , CM000673.2:g.2776990G>C	GRCh38
NC_000011.9:g.2798220G>C , CM000673.1:g.2798220G>C	GRCh37
NC_000011.8:g.2754796G>C	NCBI36
NG_008935.1:g.337000G>C , LRG_287:g.337000G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1333G>C	ENSP00000434560.2:p.Asp445His
ENST00000646564.2:c.1150G>C	ENSP00000495806.2:p.Asp384His
ENST00000155840.12:c.1690G>C MANE Select	ENSP00000155840.2:p.Asp564His
ENST00000335475.6:c.1309G>C	ENSP00000334497.5:p.Asp437His
ENST00000646564.1:c.796G>C	ENSP00000495806.1:p.Asp266His
ENST00000155840.9:c.1690G>C	ENSP00000155840.2:p.Asp564His
ENST00000335475.5:c.1309G>C	ENSP00000334497.5:p.Asp437His
NM_000218.2:c.1690G>C , LRG_287t1:c.1690G>C	NP_000209.2:p.Asp564His
NM_181798.1:c.1309G>C , LRG_287t2:c.1309G>C	NP_861463.1:p.Asp437His
NM_000218.3:c.1690G>C MANE Select	NP_000209.2:p.Asp564His