Canonical Allele Identifier: CA379139258

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 637975
• ClinVar RCV Id: RCV000790441 ; RCV001249429
• dbSNP Id: rs1590081467
• gnomAD v4: 11-2776056-T-C
• MyVariant Identifiers: chr11:g.2797286T>C (hg19) ; chr11:g.2776056T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776056T>C , CM000673.2:g.2776056T>C	GRCh38
NC_000011.9:g.2797286T>C , CM000673.1:g.2797286T>C	GRCh37
NC_000011.8:g.2753862T>C	NCBI36
NG_008935.1:g.336066T>C , LRG_287:g.336066T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1328+2T>C	ENSP00000434560.2:n.1328+2T>C
ENST00000646564.2:c.1145+2T>C	ENSP00000495806.2:n.1145+2T>C
ENST00000155840.12:c.1685+2T>C MANE Select	ENSP00000155840.2:n.1685+2T>C
ENST00000335475.6:c.1304+2T>C	ENSP00000334497.5:n.1304+2T>C
ENST00000646564.1:c.791+2T>C	ENSP00000495806.1:n.791+2T>C
ENST00000155840.9:c.1685+2T>C	ENSP00000155840.2:n.1685+2T>C
ENST00000335475.5:c.1304+2T>C	ENSP00000334497.5:n.1304+2T>C
NM_000218.2:c.1685+2T>C , LRG_287t1:c.1685+2T>C	NP_000209.2:n.1685+2T>C
NM_181798.1:c.1304+2T>C , LRG_287t2:c.1304+2T>C	NP_861463.1:n.1304+2T>C
NM_000218.3:c.1685+2T>C MANE Select	NP_000209.2:n.1685+2T>C