Canonical Allele Identifier: CA379139783

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2799257T>C (hg19) ; chr11:g.2778027T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778027T>C , CM000673.2:g.2778027T>C	GRCh38
NC_000011.9:g.2799257T>C , CM000673.1:g.2799257T>C	GRCh37
NC_000011.8:g.2755833T>C	NCBI36
NG_008935.1:g.338037T>C , LRG_287:g.338037T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1427T>C	ENSP00000434560.2:p.Val476Ala
ENST00000646564.2:c.1244T>C	ENSP00000495806.2:p.Val415Ala
ENST00000155840.12:c.1784T>C MANE Select	ENSP00000155840.2:p.Val595Ala
ENST00000335475.6:c.1403T>C	ENSP00000334497.5:p.Val468Ala
ENST00000526095.2:c.188T>C	ENSP00000494939.1:p.Val63Ala
ENST00000646564.1:c.890T>C	ENSP00000495806.1:p.Val297Ala
ENST00000155840.9:c.1784T>C	ENSP00000155840.2:p.Val595Ala
ENST00000335475.5:c.1403T>C	ENSP00000334497.5:p.Val468Ala
ENST00000526095.1:n.291T>C
NM_000218.2:c.1784T>C , LRG_287t1:c.1784T>C	NP_000209.2:p.Val595Ala
NM_181798.1:c.1403T>C , LRG_287t2:c.1403T>C	NP_861463.1:p.Val468Ala
NM_000218.3:c.1784T>C MANE Select	NP_000209.2:p.Val595Ala