Canonical Allele Identifier: CA007727

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67092
• ClinVar RCV Id: RCV000057719
• dbSNP Id: rs199472702
• MyVariant Identifiers: chr11:g.2591984G>C (hg19) ; chr11:g.2570754G>C (hg38)
• PubMed: PMID:15176425 ; PMID:16414944 ; PMID:20421371 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570754G>C , CM000673.2:g.2570754G>C	GRCh38
NC_000011.9:g.2591984G>C , CM000673.1:g.2591984G>C	GRCh37
NC_000011.8:g.2548560G>C	NCBI36
NG_008935.1:g.130764G>C , LRG_287:g.130764G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.343G>C	ENSP00000434560.2:p.Asp115His
ENST00000646564.2:c.478-12681G>C	ENSP00000495806.2:n.478-12681G>C
ENST00000155840.12:c.604G>C MANE Select	ENSP00000155840.2:p.Asp202His
ENST00000335475.6:c.223G>C	ENSP00000334497.5:p.Asp75His
ENST00000646564.1:c.124-12681G>C	ENSP00000495806.1:n.124-12681G>C
ENST00000155840.9:c.604G>C	ENSP00000155840.2:p.Asp202His
ENST00000335475.5:c.223G>C	ENSP00000334497.5:p.Asp75His
ENST00000496887.6:c.343G>C	ENSP00000434560.1:p.Asp115His
NM_000218.2:c.604G>C , LRG_287t1:c.604G>C	NP_000209.2:p.Asp202His
NM_181798.1:c.223G>C , LRG_287t2:c.223G>C	NP_861463.1:p.Asp75His
NM_000218.3:c.604G>C MANE Select	NP_000209.2:p.Asp202His