Canonical Allele Identifier: CA2612000356

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2445535-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445535G>T , CM000673.2:g.2445535G>T	GRCh38
NC_000011.9:g.2466765G>T , CM000673.1:g.2466765G>T	GRCh37
NC_000011.8:g.2423341G>T	NCBI36
NG_008935.1:g.5545G>T , LRG_287:g.5545G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.125+51G>T	ENSP00000434560.2:n.125+51G>T
ENST00000646564.2:c.386+51G>T	ENSP00000495806.2:n.386+51G>T
ENST00000155840.12:c.386+51G>T MANE Select	ENSP00000155840.2:n.386+51G>T
ENST00000646564.1:c.32+51G>T	ENSP00000495806.1:n.32+51G>T
ENST00000155840.9:c.386+51G>T	ENSP00000155840.2:n.386+51G>T
ENST00000345015.4:n.163+51G>T
ENST00000496887.6:c.125+51G>T	ENSP00000434560.1:n.125+51G>T
NM_000218.2:c.386+51G>T , LRG_287t1:c.386+51G>T	NP_000209.2:n.386+51G>T
NM_000218.3:c.386+51G>T MANE Select	NP_000209.2:n.386+51G>T