Canonical Allele Identifier: CA379132966

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 522585
• ClinVar RCV Id: RCV000625723
• dbSNP Id: rs1554894445
• MyVariant Identifiers: chr11:g.2604677A>T (hg19) ; chr11:g.2583447A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583447A>T , CM000673.2:g.2583447A>T	GRCh38
NC_000011.9:g.2604677A>T , CM000673.1:g.2604677A>T	GRCh37
NC_000011.8:g.2561253A>T	NCBI36
NG_008935.1:g.143457A>T , LRG_287:g.143457A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.673A>T	ENSP00000434560.2:p.Thr225Ser
ENST00000646564.2:c.490A>T	ENSP00000495806.2:p.Thr164Ser
ENST00000155840.12:c.934A>T MANE Select	ENSP00000155840.2:p.Thr312Ser
ENST00000335475.6:c.553A>T	ENSP00000334497.5:p.Thr185Ser
ENST00000646564.1:c.136A>T	ENSP00000495806.1:p.Thr46Ser
ENST00000155840.9:c.934A>T	ENSP00000155840.2:p.Thr312Ser
ENST00000335475.5:c.553A>T	ENSP00000334497.5:p.Thr185Ser
NM_000218.2:c.934A>T , LRG_287t1:c.934A>T	NP_000209.2:p.Thr312Ser
NM_181798.1:c.553A>T , LRG_287t2:c.553A>T	NP_861463.1:p.Thr185Ser
NM_000218.3:c.934A>T MANE Select	NP_000209.2:p.Thr312Ser