Canonical Allele Identifier: CA472038100

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1245633432
• gnomAD v2: 11-2593330-C-T
• gnomAD v4: 11-2572100-C-T
• MyVariant Identifiers: chr11:g.2593330C>T (hg19) ; chr11:g.2572100C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572100C>T , CM000673.2:g.2572100C>T	GRCh38
NC_000011.9:g.2593330C>T , CM000673.1:g.2593330C>T	GRCh37
NC_000011.8:g.2549906C>T	NCBI36
NG_008935.1:g.132110C>T , LRG_287:g.132110C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.510C>T	ENSP00000434560.2:p.Ile170=
ENST00000646564.2:c.478-11335C>T	ENSP00000495806.2:n.478-11335C>T
ENST00000155840.12:c.771C>T MANE Select	ENSP00000155840.2:p.Ile257=
ENST00000335475.6:c.390C>T	ENSP00000334497.5:p.Ile130=
ENST00000646564.1:c.124-11335C>T	ENSP00000495806.1:n.124-11335C>T
ENST00000155840.9:c.771C>T	ENSP00000155840.2:p.Ile257=
ENST00000335475.5:c.390C>T	ENSP00000334497.5:p.Ile130=
ENST00000496887.6:c.510C>T	ENSP00000434560.1:p.Ile170=
NM_000218.2:c.771C>T , LRG_287t1:c.771C>T	NP_000209.2:p.Ile257=
NM_181798.1:c.390C>T , LRG_287t2:c.390C>T	NP_861463.1:p.Ile130=
NM_000218.3:c.771C>T MANE Select	NP_000209.2:p.Ile257=