Canonical Allele Identifier: CA379132999

Gene: KCNQ1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583469T>C , CM000673.2:g.2583469T>C	GRCh38
NC_000011.9:g.2604699T>C , CM000673.1:g.2604699T>C	GRCh37
NC_000011.8:g.2561275T>C	NCBI36
NG_008935.1:g.143479T>C , LRG_287:g.143479T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.695T>C	ENSP00000434560.2:p.Val232Ala
ENST00000646564.2:c.512T>C	ENSP00000495806.2:p.Val171Ala
ENST00000155840.12:c.956T>C MANE Select	ENSP00000155840.2:p.Val319Ala
ENST00000335475.6:c.575T>C	ENSP00000334497.5:p.Val192Ala
ENST00000646564.1:c.158T>C	ENSP00000495806.1:p.Val53Ala
ENST00000155840.9:c.956T>C	ENSP00000155840.2:p.Val319Ala
ENST00000335475.5:c.575T>C	ENSP00000334497.5:p.Val192Ala
NM_000218.2:c.956T>C , LRG_287t1:c.956T>C	NP_000209.2:p.Val319Ala
NM_181798.1:c.575T>C , LRG_287t2:c.575T>C	NP_861463.1:p.Val192Ala
NM_000218.3:c.956T>C MANE Select	NP_000209.2:p.Val319Ala