Canonical Allele Identifier: CA472038437

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 456873
• ClinVar RCV Id: RCV000550131
• dbSNP Id: rs1554894464
• MyVariant Identifiers: chr11:g.2604739C>T (hg19) ; chr11:g.2583509C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583509C>T , CM000673.2:g.2583509C>T	GRCh38
NC_000011.9:g.2604739C>T , CM000673.1:g.2604739C>T	GRCh37
NC_000011.8:g.2561315C>T	NCBI36
NG_008935.1:g.143519C>T , LRG_287:g.143519C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.735C>T	ENSP00000434560.2:p.Phe245=
ENST00000646564.2:c.552C>T	ENSP00000495806.2:p.Phe184=
ENST00000155840.12:c.996C>T MANE Select	ENSP00000155840.2:p.Phe332=
ENST00000335475.6:c.615C>T	ENSP00000334497.5:p.Phe205=
ENST00000646564.1:c.198C>T	ENSP00000495806.1:p.Phe66=
ENST00000155840.9:c.996C>T	ENSP00000155840.2:p.Phe332=
ENST00000335475.5:c.615C>T	ENSP00000334497.5:p.Phe205=
NM_000218.2:c.996C>T , LRG_287t1:c.996C>T	NP_000209.2:p.Phe332=
NM_181798.1:c.615C>T , LRG_287t2:c.615C>T	NP_861463.1:p.Phe205=
NM_000218.3:c.996C>T MANE Select	NP_000209.2:p.Phe332=