Canonical Allele Identifier: CA216200854

Gene: KCNQ1

Linked Data

• dbSNP Id: rs999322039
• gnomAD v3: 11-2702448-A-C
• gnomAD v4: 11-2702448-A-C
• MyVariant Identifiers: chr11:g.2723678A>C (hg19) ; chr11:g.2702448A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2702448A>C , CM000673.2:g.2702448A>C	GRCh38
NC_000011.9:g.2723678A>C , CM000673.1:g.2723678A>C	GRCh37
NC_000011.8:g.2680254A>C	NCBI36
NG_008935.1:g.262458A>C , LRG_287:g.262458A>C
NG_016178.2:g.2551T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1157+40367A>C	ENSP00000434560.2:n.1157+40367A>C
ENST00000646564.2:c.974+40367A>C	ENSP00000495806.2:n.974+40367A>C
ENST00000155840.12:c.1514+40367A>C MANE Select	ENSP00000155840.2:n.1514+40367A>C
ENST00000335475.6:c.1133+40367A>C	ENSP00000334497.5:n.1133+40367A>C
ENST00000646564.1:c.620+40367A>C	ENSP00000495806.1:n.620+40367A>C
ENST00000155840.9:c.1514+40367A>C	ENSP00000155840.2:n.1514+40367A>C
ENST00000335475.5:c.1133+40367A>C	ENSP00000334497.5:n.1133+40367A>C
NM_000218.2:c.1514+40367A>C , LRG_287t1:c.1514+40367A>C	NP_000209.2:n.1514+40367A>C
NM_181798.1:c.1133+40367A>C , LRG_287t2:c.1133+40367A>C	NP_861463.1:n.1133+40367A>C
NM_000218.3:c.1514+40367A>C MANE Select	NP_000209.2:n.1514+40367A>C