Canonical Allele Identifier: CA379139780

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2799256G>C (hg19) ; chr11:g.2778026G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778026G>C , CM000673.2:g.2778026G>C	GRCh38
NC_000011.9:g.2799256G>C , CM000673.1:g.2799256G>C	GRCh37
NC_000011.8:g.2755832G>C	NCBI36
NG_008935.1:g.338036G>C , LRG_287:g.338036G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1426G>C	ENSP00000434560.2:p.Val476Leu
ENST00000646564.2:c.1243G>C	ENSP00000495806.2:p.Val415Leu
ENST00000155840.12:c.1783G>C MANE Select	ENSP00000155840.2:p.Val595Leu
ENST00000335475.6:c.1402G>C	ENSP00000334497.5:p.Val468Leu
ENST00000526095.2:c.187G>C	ENSP00000494939.1:p.Val63Leu
ENST00000646564.1:c.889G>C	ENSP00000495806.1:p.Val297Leu
ENST00000155840.9:c.1783G>C	ENSP00000155840.2:p.Val595Leu
ENST00000335475.5:c.1402G>C	ENSP00000334497.5:p.Val468Leu
ENST00000526095.1:n.290G>C
NM_000218.2:c.1783G>C , LRG_287t1:c.1783G>C	NP_000209.2:p.Val595Leu
NM_181798.1:c.1402G>C , LRG_287t2:c.1402G>C	NP_861463.1:p.Val468Leu
NM_000218.3:c.1783G>C MANE Select	NP_000209.2:p.Val595Leu