Canonical Allele Identifier: CA379139807

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2799263A>C (hg19) ; chr11:g.2778033A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778033A>C , CM000673.2:g.2778033A>C	GRCh38
NC_000011.9:g.2799263A>C , CM000673.1:g.2799263A>C	GRCh37
NC_000011.8:g.2755839A>C	NCBI36
NG_008935.1:g.338043A>C , LRG_287:g.338043A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1433A>C	ENSP00000434560.2:p.Asp478Ala
ENST00000646564.2:c.1250A>C	ENSP00000495806.2:p.Asp417Ala
ENST00000155840.12:c.1790A>C MANE Select	ENSP00000155840.2:p.Asp597Ala
ENST00000335475.6:c.1409A>C	ENSP00000334497.5:p.Asp470Ala
ENST00000526095.2:c.194A>C	ENSP00000494939.1:p.Asp65Ala
ENST00000646564.1:c.896A>C	ENSP00000495806.1:p.Asp299Ala
ENST00000155840.9:c.1790A>C	ENSP00000155840.2:p.Asp597Ala
ENST00000335475.5:c.1409A>C	ENSP00000334497.5:p.Asp470Ala
ENST00000526095.1:n.297A>C
NM_000218.2:c.1790A>C , LRG_287t1:c.1790A>C	NP_000209.2:p.Asp597Ala
NM_181798.1:c.1409A>C , LRG_287t2:c.1409A>C	NP_861463.1:p.Asp470Ala
NM_000218.3:c.1790A>C MANE Select	NP_000209.2:p.Asp597Ala