Canonical Allele Identifier: CA007191

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 163735
• ClinVar RCV Id: RCV000150865 ; RCV000203907 ; RCV000284036 ; RCV000287919 ; RCV000342464 ; RCV000398061 ; RCV001094023 ; RCV001706002
• dbSNP Id: rs28730664
• ExAC: 11:2549257 C / T
• gnomAD v2: 11-2549257-C-T
• gnomAD v3: 11-2528027-C-T
• gnomAD v4: 11-2528027-C-T
• MyVariant Identifiers: chr11:g.2549257C>T (hg19) ; chr11:g.2528027C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2528027C>T , CM000673.2:g.2528027C>T	GRCh38
NC_000011.9:g.2549257C>T , CM000673.1:g.2549257C>T	GRCh37
NC_000011.8:g.2505833C>T	NCBI36
NG_008935.1:g.88037C>T , LRG_287:g.88037C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.216+9C>T	ENSP00000434560.2:n.216+9C>T
ENST00000646564.2:c.477+9C>T	ENSP00000495806.2:n.477+9C>T
ENST00000155840.12:c.477+9C>T MANE Select	ENSP00000155840.2:n.477+9C>T
ENST00000335475.6:c.96+9C>T	ENSP00000334497.5:n.96+9C>T
ENST00000646564.1:c.123+9C>T	ENSP00000495806.1:n.123+9C>T
ENST00000155840.9:c.477+9C>T	ENSP00000155840.2:n.477+9C>T
ENST00000335475.5:c.96+9C>T	ENSP00000334497.5:n.96+9C>T
ENST00000496887.6:c.216+9C>T	ENSP00000434560.1:n.216+9C>T
NM_000218.2:c.477+9C>T , LRG_287t1:c.477+9C>T	NP_000209.2:n.477+9C>T
NM_181798.1:c.96+9C>T , LRG_287t2:c.96+9C>T	NP_861463.1:n.96+9C>T
NM_000218.3:c.477+9C>T MANE Select	NP_000209.2:n.477+9C>T