Canonical Allele Identifier: CA026896

Gene: KCNQ1

Linked Data

• dbSNP Id: rs374671626
• ExAC: 11:2606412 G / T
• gnomAD v2: 11-2606412-G-T
• gnomAD v3: 11-2585182-G-T
• gnomAD v4: 11-2585182-G-T
• MyVariant Identifiers: chr11:g.2606412G>T (hg19) ; chr11:g.2585182G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585182G>T , CM000673.2:g.2585182G>T	GRCh38
NC_000011.9:g.2606412G>T , CM000673.1:g.2606412G>T	GRCh37
NC_000011.8:g.2562988G>T	NCBI36
NG_008935.1:g.145192G>T , LRG_287:g.145192G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.771+1637G>T	ENSP00000434560.2:n.771+1637G>T
ENST00000646564.2:c.588+1637G>T	ENSP00000495806.2:n.588+1637G>T
ENST00000155840.12:c.1033-30G>T MANE Select	ENSP00000155840.2:n.1033-30G>T
ENST00000335475.6:c.652-30G>T	ENSP00000334497.5:n.652-30G>T
ENST00000646564.1:c.234+1637G>T	ENSP00000495806.1:n.234+1637G>T
ENST00000155840.9:c.1033-30G>T	ENSP00000155840.2:n.1033-30G>T
ENST00000335475.5:c.652-30G>T	ENSP00000334497.5:n.652-30G>T
NM_000218.2:c.1033-30G>T , LRG_287t1:c.1033-30G>T	NP_000209.2:n.1033-30G>T
NM_181798.1:c.652-30G>T , LRG_287t2:c.652-30G>T	NP_861463.1:n.652-30G>T
NM_000218.3:c.1033-30G>T MANE Select	NP_000209.2:n.1033-30G>T