Canonical Allele Identifier: CA597110456

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1340503414
• gnomAD v2: 11-2799059-C-A
• gnomAD v3: 11-2777829-C-A
• gnomAD v4: 11-2777829-C-A
• MyVariant Identifiers: chr11:g.2799059C>A (hg19) ; chr11:g.2777829C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2777829C>A , CM000673.2:g.2777829C>A	GRCh38
NC_000011.9:g.2799059C>A , CM000673.1:g.2799059C>A	GRCh37
NC_000011.8:g.2755635C>A	NCBI36
NG_008935.1:g.337839C>A , LRG_287:g.337839C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1376-147C>A	ENSP00000434560.2:n.1376-147C>A
ENST00000646564.2:c.1193-147C>A	ENSP00000495806.2:n.1193-147C>A
ENST00000155840.12:c.1733-147C>A MANE Select	ENSP00000155840.2:n.1733-147C>A
ENST00000335475.6:c.1352-147C>A	ENSP00000334497.5:n.1352-147C>A
ENST00000526095.2:c.136+16C>A	ENSP00000494939.1:n.136+16C>A
ENST00000646564.1:c.839-147C>A	ENSP00000495806.1:n.839-147C>A
ENST00000155840.9:c.1733-147C>A	ENSP00000155840.2:n.1733-147C>A
ENST00000335475.5:c.1352-147C>A	ENSP00000334497.5:n.1352-147C>A
ENST00000526095.1:n.239+16C>A
NM_000218.2:c.1733-147C>A , LRG_287t1:c.1733-147C>A	NP_000209.2:n.1733-147C>A
NM_181798.1:c.1352-147C>A , LRG_287t2:c.1352-147C>A	NP_861463.1:n.1352-147C>A
NM_000218.3:c.1733-147C>A MANE Select	NP_000209.2:n.1733-147C>A