Canonical Allele Identifier: CA379139804

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2799262G>T (hg19) ; chr11:g.2778032G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778032G>T , CM000673.2:g.2778032G>T	GRCh38
NC_000011.9:g.2799262G>T , CM000673.1:g.2799262G>T	GRCh37
NC_000011.8:g.2755838G>T	NCBI36
NG_008935.1:g.338042G>T , LRG_287:g.338042G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1432G>T	ENSP00000434560.2:p.Asp478Tyr
ENST00000646564.2:c.1249G>T	ENSP00000495806.2:p.Asp417Tyr
ENST00000155840.12:c.1789G>T MANE Select	ENSP00000155840.2:p.Asp597Tyr
ENST00000335475.6:c.1408G>T	ENSP00000334497.5:p.Asp470Tyr
ENST00000526095.2:c.193G>T	ENSP00000494939.1:p.Asp65Tyr
ENST00000646564.1:c.895G>T	ENSP00000495806.1:p.Asp299Tyr
ENST00000155840.9:c.1789G>T	ENSP00000155840.2:p.Asp597Tyr
ENST00000335475.5:c.1408G>T	ENSP00000334497.5:p.Asp470Tyr
ENST00000526095.1:n.296G>T
NM_000218.2:c.1789G>T , LRG_287t1:c.1789G>T	NP_000209.2:p.Asp597Tyr
NM_181798.1:c.1408G>T , LRG_287t2:c.1408G>T	NP_861463.1:p.Asp470Tyr
NM_000218.3:c.1789G>T MANE Select	NP_000209.2:p.Asp597Tyr