Canonical Allele Identifier: CA472236198

Gene: KCNQ1 KCNQ1OT1

Linked Data

• ClinVar Variation Id: 1659481
• ClinVar RCV Id: RCV002178584
• dbSNP Id: rs371488379
• gnomAD v2: 11-2683183-C-G
• gnomAD v3: 11-2661953-C-G
• gnomAD v4: 11-2661953-C-G
• MyVariant Identifiers: chr11:g.2683183C>G (hg19) ; chr11:g.2661953C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2661953C>G , CM000673.2:g.2661953C>G	GRCh38
NC_000011.9:g.2683183C>G , CM000673.1:g.2683183C>G	GRCh37
NC_000011.8:g.2639759C>G	NCBI36
NG_008935.1:g.221963C>G , LRG_287:g.221963C>G
NG_016178.2:g.43046G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1037-8C>G (KCNQ1)	ENSP00000434560.2:n.1037-8C>G
ENST00000646564.2:c.854-8C>G (KCNQ1)	ENSP00000495806.2:n.854-8C>G
ENST00000155840.12:c.1394-8C>G (KCNQ1) MANE Select	ENSP00000155840.2:n.1394-8C>G
ENST00000335475.6:c.1013-8C>G (KCNQ1)	ENSP00000334497.5:n.1013-8C>G
ENST00000646564.1:c.500-8C>G (KCNQ1)	ENSP00000495806.1:n.500-8C>G
ENST00000155840.9:c.1394-8C>G (KCNQ1)	ENSP00000155840.2:n.1394-8C>G
ENST00000335475.5:c.1013-8C>G (KCNQ1)	ENSP00000334497.5:n.1013-8C>G
NM_000218.2:c.1394-8C>G , LRG_287t1:c.1394-8C>G (KCNQ1)	NP_000209.2:n.1394-8C>G
NM_181798.1:c.1013-8C>G , LRG_287t2:c.1013-8C>G (KCNQ1)	NP_861463.1:n.1013-8C>G
NR_002728.3:n.38046G>C (KCNQ1OT1)
NM_000218.3:c.1394-8C>G (KCNQ1) MANE Select	NP_000209.2:n.1394-8C>G