Canonical Allele Identifier: CA597111112

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1393695617
• gnomAD v2: 11-2610216-T-A
• gnomAD v3: 11-2588986-T-A
• gnomAD v4: 11-2588986-T-A
• MyVariant Identifiers: chr11:g.2610216T>A (hg19) ; chr11:g.2588986T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588986T>A , CM000673.2:g.2588986T>A	GRCh38
NC_000011.9:g.2610216T>A , CM000673.1:g.2610216T>A	GRCh37
NC_000011.8:g.2566792T>A	NCBI36
NG_008935.1:g.148996T>A , LRG_287:g.148996T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1036+132T>A	ENSP00000434560.2:n.1036+132T>A
ENST00000646564.2:c.853+132T>A	ENSP00000495806.2:n.853+132T>A
ENST00000155840.12:c.1393+132T>A MANE Select	ENSP00000155840.2:n.1393+132T>A
ENST00000335475.6:c.1012+132T>A	ENSP00000334497.5:n.1012+132T>A
ENST00000646564.1:c.499+132T>A	ENSP00000495806.1:n.499+132T>A
ENST00000155840.9:c.1393+132T>A	ENSP00000155840.2:n.1393+132T>A
ENST00000335475.5:c.1012+132T>A	ENSP00000334497.5:n.1012+132T>A
NM_000218.2:c.1393+132T>A , LRG_287t1:c.1393+132T>A	NP_000209.2:n.1393+132T>A
NM_181798.1:c.1012+132T>A , LRG_287t2:c.1012+132T>A	NP_861463.1:n.1012+132T>A
NM_000218.3:c.1393+132T>A MANE Select	NP_000209.2:n.1393+132T>A