Canonical Allele Identifier: CA029792

Gene: KCNQ1 KCNQ1OT1

Linked Data

• ClinVar Variation Id: 925171
• ClinVar RCV Id: RCV001732067 ; RCV001840977 ; RCV002560898 ; RCV003770090
• dbSNP Id: rs759714698
• ExAC: 11:2683185 C / A
• gnomAD v2: 11-2683185-C-A
• gnomAD v3: 11-2661955-C-A
• gnomAD v4: 11-2661955-C-A
• MyVariant Identifiers: chr11:g.2683185C>A (hg19) ; chr11:g.2661955C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2661955C>A , CM000673.2:g.2661955C>A	GRCh38
NC_000011.9:g.2683185C>A , CM000673.1:g.2683185C>A	GRCh37
NC_000011.8:g.2639761C>A	NCBI36
NG_008935.1:g.221965C>A , LRG_287:g.221965C>A
NG_016178.2:g.43044G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1037-6C>A (KCNQ1)	ENSP00000434560.2:n.1037-6C>A
ENST00000646564.2:c.854-6C>A (KCNQ1)	ENSP00000495806.2:n.854-6C>A
ENST00000155840.12:c.1394-6C>A (KCNQ1) MANE Select	ENSP00000155840.2:n.1394-6C>A
ENST00000335475.6:c.1013-6C>A (KCNQ1)	ENSP00000334497.5:n.1013-6C>A
ENST00000646564.1:c.500-6C>A (KCNQ1)	ENSP00000495806.1:n.500-6C>A
ENST00000155840.9:c.1394-6C>A (KCNQ1)	ENSP00000155840.2:n.1394-6C>A
ENST00000335475.5:c.1013-6C>A (KCNQ1)	ENSP00000334497.5:n.1013-6C>A
NM_000218.2:c.1394-6C>A , LRG_287t1:c.1394-6C>A (KCNQ1)	NP_000209.2:n.1394-6C>A
NM_181798.1:c.1013-6C>A , LRG_287t2:c.1013-6C>A (KCNQ1)	NP_861463.1:n.1013-6C>A
NR_002728.3:n.38044G>T (KCNQ1OT1)
NM_000218.3:c.1394-6C>A (KCNQ1) MANE Select	NP_000209.2:n.1394-6C>A