Canonical Allele Identifier: CA379139734

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2799242C>A (hg19) ; chr11:g.2778012C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778012C>A , CM000673.2:g.2778012C>A	GRCh38
NC_000011.9:g.2799242C>A , CM000673.1:g.2799242C>A	GRCh37
NC_000011.8:g.2755818C>A	NCBI36
NG_008935.1:g.338022C>A , LRG_287:g.338022C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1412C>A	ENSP00000434560.2:p.Ala471Asp
ENST00000646564.2:c.1229C>A	ENSP00000495806.2:p.Ala410Asp
ENST00000155840.12:c.1769C>A MANE Select	ENSP00000155840.2:p.Ala590Asp
ENST00000335475.6:c.1388C>A	ENSP00000334497.5:p.Ala463Asp
ENST00000526095.2:c.173C>A	ENSP00000494939.1:p.Ala58Asp
ENST00000646564.1:c.875C>A	ENSP00000495806.1:p.Ala292Asp
ENST00000155840.9:c.1769C>A	ENSP00000155840.2:p.Ala590Asp
ENST00000335475.5:c.1388C>A	ENSP00000334497.5:p.Ala463Asp
ENST00000526095.1:n.276C>A
NM_000218.2:c.1769C>A , LRG_287t1:c.1769C>A	NP_000209.2:p.Ala590Asp
NM_181798.1:c.1388C>A , LRG_287t2:c.1388C>A	NP_861463.1:p.Ala463Asp
NM_000218.3:c.1769C>A MANE Select	NP_000209.2:p.Ala590Asp