Canonical Allele Identifier: CA379134701

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1235054708
• gnomAD v2: 11-2608830-C-A
• gnomAD v4: 11-2587600-C-A
• MyVariant Identifiers: chr11:g.2608830C>A (hg19) ; chr11:g.2587600C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587600C>A , CM000673.2:g.2587600C>A	GRCh38
NC_000011.9:g.2608830C>A , CM000673.1:g.2608830C>A	GRCh37
NC_000011.8:g.2565406C>A	NCBI36
NG_008935.1:g.147610C>A , LRG_287:g.147610C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.802C>A	ENSP00000434560.2:p.Pro268Thr
ENST00000646564.2:c.619C>A	ENSP00000495806.2:p.Pro207Thr
ENST00000155840.12:c.1159C>A MANE Select	ENSP00000155840.2:p.Pro387Thr
ENST00000335475.6:c.778C>A	ENSP00000334497.5:p.Pro260Thr
ENST00000646564.1:c.265C>A	ENSP00000495806.1:p.Pro89Thr
ENST00000155840.9:c.1159C>A	ENSP00000155840.2:p.Pro387Thr
ENST00000335475.5:c.778C>A	ENSP00000334497.5:p.Pro260Thr
NM_000218.2:c.1159C>A , LRG_287t1:c.1159C>A	NP_000209.2:p.Pro387Thr
NM_181798.1:c.778C>A , LRG_287t2:c.778C>A	NP_861463.1:p.Pro260Thr
NM_000218.3:c.1159C>A MANE Select	NP_000209.2:p.Pro387Thr