Canonical Allele Identifier: CA379139812

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2799264C>A (hg19) ; chr11:g.2778034C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778034C>A , CM000673.2:g.2778034C>A	GRCh38
NC_000011.9:g.2799264C>A , CM000673.1:g.2799264C>A	GRCh37
NC_000011.8:g.2755840C>A	NCBI36
NG_008935.1:g.338044C>A , LRG_287:g.338044C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1434C>A	ENSP00000434560.2:p.Asp478Glu
ENST00000646564.2:c.1251C>A	ENSP00000495806.2:p.Asp417Glu
ENST00000155840.12:c.1791C>A MANE Select	ENSP00000155840.2:p.Asp597Glu
ENST00000335475.6:c.1410C>A	ENSP00000334497.5:p.Asp470Glu
ENST00000526095.2:c.195C>A	ENSP00000494939.1:p.Asp65Glu
ENST00000646564.1:c.897C>A	ENSP00000495806.1:p.Asp299Glu
ENST00000155840.9:c.1791C>A	ENSP00000155840.2:p.Asp597Glu
ENST00000335475.5:c.1410C>A	ENSP00000334497.5:p.Asp470Glu
ENST00000526095.1:n.298C>A
NM_000218.2:c.1791C>A , LRG_287t1:c.1791C>A	NP_000209.2:p.Asp597Glu
NM_181798.1:c.1410C>A , LRG_287t2:c.1410C>A	NP_861463.1:p.Asp470Glu
NM_000218.3:c.1791C>A MANE Select	NP_000209.2:p.Asp597Glu