Canonical Allele Identifier: CA913188345

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 922323
• ClinVar RCV Id: RCV001843123
• dbSNP Id: rs1848614141

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587695G>A , CM000673.2:g.2587695G>A	GRCh38
NC_000011.9:g.2608925G>A , CM000673.1:g.2608925G>A	GRCh37
NC_000011.8:g.2565501G>A	NCBI36
NG_008935.1:g.147705G>A , LRG_287:g.147705G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.894+3G>A	ENSP00000434560.2:n.894+3G>A
ENST00000646564.2:c.711+3G>A	ENSP00000495806.2:n.711+3G>A
ENST00000155840.12:c.1251+3G>A MANE Select	ENSP00000155840.2:n.1251+3G>A
ENST00000335475.6:c.870+3G>A	ENSP00000334497.5:n.870+3G>A
ENST00000646564.1:c.357+3G>A	ENSP00000495806.1:n.357+3G>A
ENST00000155840.9:c.1251+3G>A	ENSP00000155840.2:n.1251+3G>A
ENST00000335475.5:c.870+3G>A	ENSP00000334497.5:n.870+3G>A
NM_000218.2:c.1251+3G>A , LRG_287t1:c.1251+3G>A	NP_000209.2:n.1251+3G>A
NM_181798.1:c.870+3G>A , LRG_287t2:c.870+3G>A	NP_861463.1:n.870+3G>A
NM_000218.3:c.1251+3G>A MANE Select	NP_000209.2:n.1251+3G>A