Canonical Allele Identifier: CA040036

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 993829
• ClinVar RCV Id: RCV001565355 ; RCV001871679 ; RCV002366107
• dbSNP Id: rs780236727
• ExAC: 11:2593257 T / C
• gnomAD v2: 11-2593257-T-C
• gnomAD v3: 11-2572027-T-C
• gnomAD v4: 11-2572027-T-C
• MyVariant Identifiers: chr11:g.2593257T>C (hg19) ; chr11:g.2572027T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572027T>C , CM000673.2:g.2572027T>C	GRCh38
NC_000011.9:g.2593257T>C , CM000673.1:g.2593257T>C	GRCh37
NC_000011.8:g.2549833T>C	NCBI36
NG_008935.1:g.132037T>C , LRG_287:g.132037T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.437T>C	ENSP00000434560.2:p.Leu146Pro
ENST00000646564.2:c.478-11408T>C	ENSP00000495806.2:n.478-11408T>C
ENST00000155840.12:c.698T>C MANE Select	ENSP00000155840.2:p.Leu233Pro
ENST00000335475.6:c.317T>C	ENSP00000334497.5:p.Leu106Pro
ENST00000646564.1:c.124-11408T>C	ENSP00000495806.1:n.124-11408T>C
ENST00000155840.9:c.698T>C	ENSP00000155840.2:p.Leu233Pro
ENST00000335475.5:c.317T>C	ENSP00000334497.5:p.Leu106Pro
ENST00000496887.6:c.437T>C	ENSP00000434560.1:p.Leu146Pro
NM_000218.2:c.698T>C , LRG_287t1:c.698T>C	NP_000209.2:p.Leu233Pro
NM_181798.1:c.317T>C , LRG_287t2:c.317T>C	NP_861463.1:p.Leu106Pro
NM_000218.3:c.698T>C MANE Select	NP_000209.2:p.Leu233Pro