Canonical Allele Identifier: CA653929635

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2583408-G-T
• COSMIC: COSN26551655

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583408G>T , CM000673.2:g.2583408G>T	GRCh38
NC_000011.9:g.2604638G>T , CM000673.1:g.2604638G>T	GRCh37
NC_000011.8:g.2561214G>T	NCBI36
NG_008935.1:g.143418G>T , LRG_287:g.143418G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.661-27G>T	ENSP00000434560.2:n.661-27G>T
ENST00000646564.2:c.478-27G>T	ENSP00000495806.2:n.478-27G>T
ENST00000155840.12:c.922-27G>T MANE Select	ENSP00000155840.2:n.922-27G>T
ENST00000335475.6:c.541-27G>T	ENSP00000334497.5:n.541-27G>T
ENST00000646564.1:c.124-27G>T	ENSP00000495806.1:n.124-27G>T
ENST00000155840.9:c.922-27G>T	ENSP00000155840.2:n.922-27G>T
ENST00000335475.5:c.541-27G>T	ENSP00000334497.5:n.541-27G>T
NM_000218.2:c.922-27G>T , LRG_287t1:c.922-27G>T	NP_000209.2:n.922-27G>T
NM_181798.1:c.541-27G>T , LRG_287t2:c.541-27G>T	NP_861463.1:n.541-27G>T
NM_000218.3:c.922-27G>T MANE Select	NP_000209.2:n.922-27G>T