Canonical Allele Identifier: CA379131065

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1283649769
• gnomAD v3: 11-2572096-T-C
• gnomAD v4: 11-2572096-T-C
• MyVariant Identifiers: chr11:g.2593326T>C (hg19) ; chr11:g.2572096T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572096T>C , CM000673.2:g.2572096T>C	GRCh38
NC_000011.9:g.2593326T>C , CM000673.1:g.2593326T>C	GRCh37
NC_000011.8:g.2549902T>C	NCBI36
NG_008935.1:g.132106T>C , LRG_287:g.132106T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.506T>C	ENSP00000434560.2:p.Phe169Ser
ENST00000646564.2:c.478-11339T>C	ENSP00000495806.2:n.478-11339T>C
ENST00000155840.12:c.767T>C MANE Select	ENSP00000155840.2:p.Phe256Ser
ENST00000335475.6:c.386T>C	ENSP00000334497.5:p.Phe129Ser
ENST00000646564.1:c.124-11339T>C	ENSP00000495806.1:n.124-11339T>C
ENST00000155840.9:c.767T>C	ENSP00000155840.2:p.Phe256Ser
ENST00000335475.5:c.386T>C	ENSP00000334497.5:p.Phe129Ser
ENST00000496887.6:c.506T>C	ENSP00000434560.1:p.Phe169Ser
NM_000218.2:c.767T>C , LRG_287t1:c.767T>C	NP_000209.2:p.Phe256Ser
NM_181798.1:c.386T>C , LRG_287t2:c.386T>C	NP_861463.1:p.Phe129Ser
NM_000218.3:c.767T>C MANE Select	NP_000209.2:p.Phe256Ser