Canonical Allele Identifier: CA379134677

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2608818G>T (hg19) ; chr11:g.2587588G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587588G>T , CM000673.2:g.2587588G>T	GRCh38
NC_000011.9:g.2608818G>T , CM000673.1:g.2608818G>T	GRCh37
NC_000011.8:g.2565394G>T	NCBI36
NG_008935.1:g.147598G>T , LRG_287:g.147598G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.790G>T	ENSP00000434560.2:p.Ala264Ser
ENST00000646564.2:c.607G>T	ENSP00000495806.2:p.Ala203Ser
ENST00000155840.12:c.1147G>T MANE Select	ENSP00000155840.2:p.Ala383Ser
ENST00000335475.6:c.766G>T	ENSP00000334497.5:p.Ala256Ser
ENST00000646564.1:c.253G>T	ENSP00000495806.1:p.Ala85Ser
ENST00000155840.9:c.1147G>T	ENSP00000155840.2:p.Ala383Ser
ENST00000335475.5:c.766G>T	ENSP00000334497.5:p.Ala256Ser
NM_000218.2:c.1147G>T , LRG_287t1:c.1147G>T	NP_000209.2:p.Ala383Ser
NM_181798.1:c.766G>T , LRG_287t2:c.766G>T	NP_861463.1:p.Ala256Ser
NM_000218.3:c.1147G>T MANE Select	NP_000209.2:p.Ala383Ser