Canonical Allele Identifier: CA032384

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 516903
• ClinVar RCV Id: RCV000605864 ; RCV002066781
• dbSNP Id: rs374351635
• ExAC: 11:2799190 G / A
• gnomAD v2: 11-2799190-G-A
• gnomAD v3: 11-2777960-G-A
• gnomAD v4: 11-2777960-G-A
• MyVariant Identifiers: chr11:g.2799190G>A (hg19) ; chr11:g.2777960G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2777960G>A , CM000673.2:g.2777960G>A	GRCh38
NC_000011.9:g.2799190G>A , CM000673.1:g.2799190G>A	GRCh37
NC_000011.8:g.2755766G>A	NCBI36
NG_008935.1:g.337970G>A , LRG_287:g.337970G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1376-16G>A	ENSP00000434560.2:n.1376-16G>A
ENST00000646564.2:c.1193-16G>A	ENSP00000495806.2:n.1193-16G>A
ENST00000155840.12:c.1733-16G>A MANE Select	ENSP00000155840.2:n.1733-16G>A
ENST00000335475.6:c.1352-16G>A	ENSP00000334497.5:n.1352-16G>A
ENST00000526095.2:c.137-16G>A	ENSP00000494939.1:n.137-16G>A
ENST00000646564.1:c.839-16G>A	ENSP00000495806.1:n.839-16G>A
ENST00000155840.9:c.1733-16G>A	ENSP00000155840.2:n.1733-16G>A
ENST00000335475.5:c.1352-16G>A	ENSP00000334497.5:n.1352-16G>A
ENST00000526095.1:n.240-16G>A
NM_000218.2:c.1733-16G>A , LRG_287t1:c.1733-16G>A	NP_000209.2:n.1733-16G>A
NM_181798.1:c.1352-16G>A , LRG_287t2:c.1352-16G>A	NP_861463.1:n.1352-16G>A
NM_000218.3:c.1733-16G>A MANE Select	NP_000209.2:n.1733-16G>A