Canonical Allele Identifier: CA379121473

Gene: KCNQ1

Linked Data

• dbSNP Id: rs199472688
• gnomAD v2: 11-2549207-G-C
• gnomAD v4: 11-2527977-G-C
• MyVariant Identifiers: chr11:g.2549207G>C (hg19) ; chr11:g.2527977G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527977G>C , CM000673.2:g.2527977G>C	GRCh38
NC_000011.9:g.2549207G>C , CM000673.1:g.2549207G>C	GRCh37
NC_000011.8:g.2505783G>C	NCBI36
NG_008935.1:g.87987G>C , LRG_287:g.87987G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.175G>C	ENSP00000434560.2:p.Glu59Gln
ENST00000646564.2:c.436G>C	ENSP00000495806.2:p.Glu146Gln
ENST00000155840.12:c.436G>C MANE Select	ENSP00000155840.2:p.Glu146Gln
ENST00000335475.6:c.55G>C	ENSP00000334497.5:p.Glu19Gln
ENST00000646564.1:c.82G>C	ENSP00000495806.1:p.Glu28Gln
ENST00000155840.9:c.436G>C	ENSP00000155840.2:p.Glu146Gln
ENST00000335475.5:c.55G>C	ENSP00000334497.5:p.Glu19Gln
ENST00000496887.6:c.175G>C	ENSP00000434560.1:p.Glu59Gln
NM_000218.2:c.436G>C , LRG_287t1:c.436G>C	NP_000209.2:p.Glu146Gln
NM_181798.1:c.55G>C , LRG_287t2:c.55G>C	NP_861463.1:p.Glu19Gln
NM_000218.3:c.436G>C MANE Select	NP_000209.2:p.Glu146Gln