Canonical Allele Identifier: CA379139013

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 519343
• ClinVar RCV Id: RCV000620758
• dbSNP Id: rs1554919483
• MyVariant Identifiers: chr11:g.2790137G>T (hg19) ; chr11:g.2768907G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768907G>T , CM000673.2:g.2768907G>T	GRCh38
NC_000011.9:g.2790137G>T , CM000673.1:g.2790137G>T	GRCh37
NC_000011.8:g.2746713G>T	NCBI36
NG_008935.1:g.328917G>T , LRG_287:g.328917G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1221G>T	ENSP00000434560.2:p.Lys407Asn
ENST00000646564.2:c.1038G>T	ENSP00000495806.2:p.Lys346Asn
ENST00000155840.12:c.1578G>T MANE Select	ENSP00000155840.2:p.Lys526Asn
ENST00000335475.6:c.1197G>T	ENSP00000334497.5:p.Lys399Asn
ENST00000646564.1:c.684G>T	ENSP00000495806.1:p.Lys228Asn
ENST00000155840.9:c.1578G>T	ENSP00000155840.2:p.Lys526Asn
ENST00000335475.5:c.1197G>T	ENSP00000334497.5:p.Lys399Asn
NM_000218.2:c.1578G>T , LRG_287t1:c.1578G>T	NP_000209.2:p.Lys526Asn
NM_181798.1:c.1197G>T , LRG_287t2:c.1197G>T	NP_861463.1:p.Lys399Asn
NM_000218.3:c.1578G>T MANE Select	NP_000209.2:p.Lys526Asn