Canonical Allele Identifier: CA1948242843

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1848349116
• gnomAD v4: 11-2572244-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572244A>T , CM000673.2:g.2572244A>T	GRCh38
NC_000011.9:g.2593474A>T , CM000673.1:g.2593474A>T	GRCh37
NC_000011.8:g.2550050A>T	NCBI36
NG_008935.1:g.132254A>T , LRG_287:g.132254A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.519+135A>T	ENSP00000434560.2:n.519+135A>T
ENST00000646564.2:c.478-11191A>T	ENSP00000495806.2:n.478-11191A>T
ENST00000155840.12:c.780+135A>T MANE Select	ENSP00000155840.2:n.780+135A>T
ENST00000335475.6:c.399+135A>T	ENSP00000334497.5:n.399+135A>T
ENST00000646564.1:c.124-11191A>T	ENSP00000495806.1:n.124-11191A>T
ENST00000155840.9:c.780+135A>T	ENSP00000155840.2:n.780+135A>T
ENST00000335475.5:c.399+135A>T	ENSP00000334497.5:n.399+135A>T
ENST00000496887.6:c.519+135A>T	ENSP00000434560.1:n.519+135A>T
NM_000218.2:c.780+135A>T , LRG_287t1:c.780+135A>T	NP_000209.2:n.780+135A>T
NM_181798.1:c.399+135A>T , LRG_287t2:c.399+135A>T	NP_861463.1:n.399+135A>T
NM_000218.3:c.780+135A>T MANE Select	NP_000209.2:n.780+135A>T