Canonical Allele Identifier: CA216200726

Gene: KCNQ1

Linked Data

• dbSNP Id: rs965648581
• gnomAD v3: 11-2702277-G-A
• gnomAD v4: 11-2702277-G-A
• MyVariant Identifiers: chr11:g.2723507G>A (hg19) ; chr11:g.2702277G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2702277G>A , CM000673.2:g.2702277G>A	GRCh38
NC_000011.9:g.2723507G>A , CM000673.1:g.2723507G>A	GRCh37
NC_000011.8:g.2680083G>A	NCBI36
NG_008935.1:g.262287G>A , LRG_287:g.262287G>A
NG_016178.2:g.2722C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1157+40196G>A	ENSP00000434560.2:n.1157+40196G>A
ENST00000646564.2:c.974+40196G>A	ENSP00000495806.2:n.974+40196G>A
ENST00000155840.12:c.1514+40196G>A MANE Select	ENSP00000155840.2:n.1514+40196G>A
ENST00000335475.6:c.1133+40196G>A	ENSP00000334497.5:n.1133+40196G>A
ENST00000646564.1:c.620+40196G>A	ENSP00000495806.1:n.620+40196G>A
ENST00000155840.9:c.1514+40196G>A	ENSP00000155840.2:n.1514+40196G>A
ENST00000335475.5:c.1133+40196G>A	ENSP00000334497.5:n.1133+40196G>A
NM_000218.2:c.1514+40196G>A , LRG_287t1:c.1514+40196G>A	NP_000209.2:n.1514+40196G>A
NM_181798.1:c.1133+40196G>A , LRG_287t2:c.1133+40196G>A	NP_861463.1:n.1133+40196G>A
NM_000218.3:c.1514+40196G>A MANE Select	NP_000209.2:n.1514+40196G>A