Canonical Allele Identifier: CA379131079

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2593328A>T (hg19) ; chr11:g.2572098A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572098A>T , CM000673.2:g.2572098A>T	GRCh38
NC_000011.9:g.2593328A>T , CM000673.1:g.2593328A>T	GRCh37
NC_000011.8:g.2549904A>T	NCBI36
NG_008935.1:g.132108A>T , LRG_287:g.132108A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.508A>T	ENSP00000434560.2:p.Ile170Phe
ENST00000646564.2:c.478-11337A>T	ENSP00000495806.2:n.478-11337A>T
ENST00000155840.12:c.769A>T MANE Select	ENSP00000155840.2:p.Ile257Phe
ENST00000335475.6:c.388A>T	ENSP00000334497.5:p.Ile130Phe
ENST00000646564.1:c.124-11337A>T	ENSP00000495806.1:n.124-11337A>T
ENST00000155840.9:c.769A>T	ENSP00000155840.2:p.Ile257Phe
ENST00000335475.5:c.388A>T	ENSP00000334497.5:p.Ile130Phe
ENST00000496887.6:c.508A>T	ENSP00000434560.1:p.Ile170Phe
NM_000218.2:c.769A>T , LRG_287t1:c.769A>T	NP_000209.2:p.Ile257Phe
NM_181798.1:c.388A>T , LRG_287t2:c.388A>T	NP_861463.1:p.Ile130Phe
NM_000218.3:c.769A>T MANE Select	NP_000209.2:p.Ile257Phe