Canonical Allele Identifier: CA216321852

Gene: KCNQ1

Linked Data

• dbSNP Id: rs781248770
• gnomAD v2: 11-2799032-G-A
• gnomAD v3: 11-2777802-G-A
• gnomAD v4: 11-2777802-G-A
• MyVariant Identifiers: chr11:g.2799032G>A (hg19) ; chr11:g.2777802G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2777802G>A , CM000673.2:g.2777802G>A	GRCh38
NC_000011.9:g.2799032G>A , CM000673.1:g.2799032G>A	GRCh37
NC_000011.8:g.2755608G>A	NCBI36
NG_008935.1:g.337812G>A , LRG_287:g.337812G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1376-174G>A	ENSP00000434560.2:n.1376-174G>A
ENST00000646564.2:c.1193-174G>A	ENSP00000495806.2:n.1193-174G>A
ENST00000155840.12:c.1733-174G>A MANE Select	ENSP00000155840.2:n.1733-174G>A
ENST00000335475.6:c.1352-174G>A	ENSP00000334497.5:n.1352-174G>A
ENST00000526095.2:c.125G>A	ENSP00000494939.1:p.Arg42His
ENST00000646564.1:c.839-174G>A	ENSP00000495806.1:n.839-174G>A
ENST00000155840.9:c.1733-174G>A	ENSP00000155840.2:n.1733-174G>A
ENST00000335475.5:c.1352-174G>A	ENSP00000334497.5:n.1352-174G>A
ENST00000526095.1:n.228G>A
NM_000218.2:c.1733-174G>A , LRG_287t1:c.1733-174G>A	NP_000209.2:n.1733-174G>A
NM_181798.1:c.1352-174G>A , LRG_287t2:c.1352-174G>A	NP_861463.1:n.1352-174G>A
NM_000218.3:c.1733-174G>A MANE Select	NP_000209.2:n.1733-174G>A