Canonical Allele Identifier: CA2612002147

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2570507-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570507G>T , CM000673.2:g.2570507G>T	GRCh38
NC_000011.9:g.2591737G>T , CM000673.1:g.2591737G>T	GRCh37
NC_000011.8:g.2548313G>T	NCBI36
NG_008935.1:g.130517G>T , LRG_287:g.130517G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.217-121G>T	ENSP00000434560.2:n.217-121G>T
ENST00000646564.2:c.478-12928G>T	ENSP00000495806.2:n.478-12928G>T
ENST00000155840.12:c.478-121G>T MANE Select	ENSP00000155840.2:n.478-121G>T
ENST00000335475.6:c.97-121G>T	ENSP00000334497.5:n.97-121G>T
ENST00000646564.1:c.124-12928G>T	ENSP00000495806.1:n.124-12928G>T
ENST00000155840.9:c.478-121G>T	ENSP00000155840.2:n.478-121G>T
ENST00000335475.5:c.97-121G>T	ENSP00000334497.5:n.97-121G>T
ENST00000496887.6:c.217-121G>T	ENSP00000434560.1:n.217-121G>T
NM_000218.2:c.478-121G>T , LRG_287t1:c.478-121G>T	NP_000209.2:n.478-121G>T
NM_181798.1:c.97-121G>T , LRG_287t2:c.97-121G>T	NP_861463.1:n.97-121G>T
NM_000218.3:c.478-121G>T MANE Select	NP_000209.2:n.478-121G>T