Canonical Allele Identifier: CA030744

Gene: KCNQ1

Linked Data

• dbSNP Id: rs756303877
• ExAC: 11:2790086 C / T
• gnomAD v2: 11-2790086-C-T
• gnomAD v4: 11-2768856-C-T
• MyVariant Identifiers: chr11:g.2790086C>T (hg19) ; chr11:g.2768856C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768856C>T , CM000673.2:g.2768856C>T	GRCh38
NC_000011.9:g.2790086C>T , CM000673.1:g.2790086C>T	GRCh37
NC_000011.8:g.2746662C>T	NCBI36
NG_008935.1:g.328866C>T , LRG_287:g.328866C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1170C>T	ENSP00000434560.2:p.His390=
ENST00000646564.2:c.987C>T	ENSP00000495806.2:p.His329=
ENST00000155840.12:c.1527C>T MANE Select	ENSP00000155840.2:p.His509=
ENST00000335475.6:c.1146C>T	ENSP00000334497.5:p.His382=
ENST00000646564.1:c.633C>T	ENSP00000495806.1:p.His211=
ENST00000155840.9:c.1527C>T	ENSP00000155840.2:p.His509=
ENST00000335475.5:c.1146C>T	ENSP00000334497.5:p.His382=
NM_000218.2:c.1527C>T , LRG_287t1:c.1527C>T	NP_000209.2:p.His509=
NM_181798.1:c.1146C>T , LRG_287t2:c.1146C>T	NP_861463.1:p.His382=
NM_000218.3:c.1527C>T MANE Select	NP_000209.2:p.His509=