Canonical Allele Identifier: CA13370360

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1289920
• ClinVar RCV Id: RCV001714847
• dbSNP Id: rs7128407
• gnomAD v2: 11-2593185-C-T
• gnomAD v3: 11-2571955-C-T
• gnomAD v4: 11-2571955-C-T
• MyVariant Identifiers: chr11:g.2593185C>T (hg19) ; chr11:g.2571955C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571955C>T , CM000673.2:g.2571955C>T	GRCh38
NC_000011.9:g.2593185C>T , CM000673.1:g.2593185C>T	GRCh37
NC_000011.8:g.2549761C>T	NCBI36
NG_008935.1:g.131965C>T , LRG_287:g.131965C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.423-58C>T	ENSP00000434560.2:n.423-58C>T
ENST00000646564.2:c.478-11480C>T	ENSP00000495806.2:n.478-11480C>T
ENST00000155840.12:c.684-58C>T MANE Select	ENSP00000155840.2:n.684-58C>T
ENST00000335475.6:c.303-58C>T	ENSP00000334497.5:n.303-58C>T
ENST00000646564.1:c.124-11480C>T	ENSP00000495806.1:n.124-11480C>T
ENST00000155840.9:c.684-58C>T	ENSP00000155840.2:n.684-58C>T
ENST00000335475.5:c.303-58C>T	ENSP00000334497.5:n.303-58C>T
ENST00000496887.6:c.423-58C>T	ENSP00000434560.1:n.423-58C>T
NM_000218.2:c.684-58C>T , LRG_287t1:c.684-58C>T	NP_000209.2:n.684-58C>T
NM_181798.1:c.303-58C>T , LRG_287t2:c.303-58C>T	NP_861463.1:n.303-58C>T
NM_000218.3:c.684-58C>T MANE Select	NP_000209.2:n.684-58C>T