Canonical Allele Identifier: CA934472030

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1850832565
• gnomAD v3: 11-2702477-G-T
• gnomAD v4: 11-2702477-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2702477G>T , CM000673.2:g.2702477G>T	GRCh38
NC_000011.9:g.2723707G>T , CM000673.1:g.2723707G>T	GRCh37
NC_000011.8:g.2680283G>T	NCBI36
NG_008935.1:g.262487G>T , LRG_287:g.262487G>T
NG_016178.2:g.2522C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1157+40396G>T	ENSP00000434560.2:n.1157+40396G>T
ENST00000646564.2:c.974+40396G>T	ENSP00000495806.2:n.974+40396G>T
ENST00000155840.12:c.1514+40396G>T MANE Select	ENSP00000155840.2:n.1514+40396G>T
ENST00000335475.6:c.1133+40396G>T	ENSP00000334497.5:n.1133+40396G>T
ENST00000646564.1:c.620+40396G>T	ENSP00000495806.1:n.620+40396G>T
ENST00000155840.9:c.1514+40396G>T	ENSP00000155840.2:n.1514+40396G>T
ENST00000335475.5:c.1133+40396G>T	ENSP00000334497.5:n.1133+40396G>T
NM_000218.2:c.1514+40396G>T , LRG_287t1:c.1514+40396G>T	NP_000209.2:n.1514+40396G>T
NM_181798.1:c.1133+40396G>T , LRG_287t2:c.1133+40396G>T	NP_861463.1:n.1133+40396G>T
NM_000218.3:c.1514+40396G>T MANE Select	NP_000209.2:n.1514+40396G>T