Canonical Allele Identifier: CA10575755

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 207970
• ClinVar RCV Id: RCV000234796 ; RCV000461061
• dbSNP Id: rs878854348
• MyVariant Identifiers: chr11:g.2799205G>C (hg19) ; chr11:g.2777975G>C (hg38)
• PubMed: PMID:27041150 ; PMID:27485560

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2777975G>C , CM000673.2:g.2777975G>C	GRCh38
NC_000011.9:g.2799205G>C , CM000673.1:g.2799205G>C	GRCh37
NC_000011.8:g.2755781G>C	NCBI36
NG_008935.1:g.337985G>C , LRG_287:g.337985G>C

Transcript Alleles

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