Canonical Allele Identifier: CA597370678

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1288779864
• gnomAD v2: 11-2723673-C-A
• gnomAD v3: 11-2702443-C-A
• gnomAD v4: 11-2702443-C-A
• MyVariant Identifiers: chr11:g.2723673C>A (hg19) ; chr11:g.2702443C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2702443C>A , CM000673.2:g.2702443C>A	GRCh38
NC_000011.9:g.2723673C>A , CM000673.1:g.2723673C>A	GRCh37
NC_000011.8:g.2680249C>A	NCBI36
NG_008935.1:g.262453C>A , LRG_287:g.262453C>A
NG_016178.2:g.2556G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1157+40362C>A	ENSP00000434560.2:n.1157+40362C>A
ENST00000646564.2:c.974+40362C>A	ENSP00000495806.2:n.974+40362C>A
ENST00000155840.12:c.1514+40362C>A MANE Select	ENSP00000155840.2:n.1514+40362C>A
ENST00000335475.6:c.1133+40362C>A	ENSP00000334497.5:n.1133+40362C>A
ENST00000646564.1:c.620+40362C>A	ENSP00000495806.1:n.620+40362C>A
ENST00000155840.9:c.1514+40362C>A	ENSP00000155840.2:n.1514+40362C>A
ENST00000335475.5:c.1133+40362C>A	ENSP00000334497.5:n.1133+40362C>A
NM_000218.2:c.1514+40362C>A , LRG_287t1:c.1514+40362C>A	NP_000209.2:n.1514+40362C>A
NM_181798.1:c.1133+40362C>A , LRG_287t2:c.1133+40362C>A	NP_861463.1:n.1133+40362C>A
NM_000218.3:c.1514+40362C>A MANE Select	NP_000209.2:n.1514+40362C>A