Canonical Allele Identifier: CA216314532

Gene: KCNQ1

Linked Data

• dbSNP Id: rs565005001
• gnomAD v3: 11-2768487-C-T
• gnomAD v4: 11-2768487-C-T
• MyVariant Identifiers: chr11:g.2789717C>T (hg19) ; chr11:g.2768487C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768487C>T , CM000673.2:g.2768487C>T	GRCh38
NC_000011.9:g.2789717C>T , CM000673.1:g.2789717C>T	GRCh37
NC_000011.8:g.2746293C>T	NCBI36
NG_008935.1:g.328497C>T , LRG_287:g.328497C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1158-357C>T	ENSP00000434560.2:n.1158-357C>T
ENST00000646564.2:c.975-357C>T	ENSP00000495806.2:n.975-357C>T
ENST00000155840.12:c.1515-357C>T MANE Select	ENSP00000155840.2:n.1515-357C>T
ENST00000335475.6:c.1134-357C>T	ENSP00000334497.5:n.1134-357C>T
ENST00000646564.1:c.621-357C>T	ENSP00000495806.1:n.621-357C>T
ENST00000155840.9:c.1515-357C>T	ENSP00000155840.2:n.1515-357C>T
ENST00000335475.5:c.1134-357C>T	ENSP00000334497.5:n.1134-357C>T
NM_000218.2:c.1515-357C>T , LRG_287t1:c.1515-357C>T	NP_000209.2:n.1515-357C>T
NM_181798.1:c.1134-357C>T , LRG_287t2:c.1134-357C>T	NP_861463.1:n.1134-357C>T
NM_000218.3:c.1515-357C>T MANE Select	NP_000209.2:n.1515-357C>T