Canonical Allele Identifier: CA216314703

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1234116
• ClinVar RCV Id: RCV001620352
• dbSNP Id: rs2075870
• gnomAD v2: 11-2790019-G-A
• gnomAD v3: 11-2768789-G-A
• gnomAD v4: 11-2768789-G-A
• MyVariant Identifiers: chr11:g.2790019G>A (hg19) ; chr11:g.2768789G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768789G>A , CM000673.2:g.2768789G>A	GRCh38
NC_000011.9:g.2790019G>A , CM000673.1:g.2790019G>A	GRCh37
NC_000011.8:g.2746595G>A	NCBI36
NG_008935.1:g.328799G>A , LRG_287:g.328799G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1158-55G>A	ENSP00000434560.2:n.1158-55G>A
ENST00000646564.2:c.975-55G>A	ENSP00000495806.2:n.975-55G>A
ENST00000155840.12:c.1515-55G>A MANE Select	ENSP00000155840.2:n.1515-55G>A
ENST00000335475.6:c.1134-55G>A	ENSP00000334497.5:n.1134-55G>A
ENST00000646564.1:c.621-55G>A	ENSP00000495806.1:n.621-55G>A
ENST00000155840.9:c.1515-55G>A	ENSP00000155840.2:n.1515-55G>A
ENST00000335475.5:c.1134-55G>A	ENSP00000334497.5:n.1134-55G>A
NM_000218.2:c.1515-55G>A , LRG_287t1:c.1515-55G>A	NP_000209.2:n.1515-55G>A
NM_181798.1:c.1134-55G>A , LRG_287t2:c.1134-55G>A	NP_861463.1:n.1134-55G>A
NM_000218.3:c.1515-55G>A MANE Select	NP_000209.2:n.1515-55G>A