Canonical Allele Identifier: CA379121377

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2549192G>C (hg19) ; chr11:g.2527962G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527962G>C , CM000673.2:g.2527962G>C	GRCh38
NC_000011.9:g.2549192G>C , CM000673.1:g.2549192G>C	GRCh37
NC_000011.8:g.2505768G>C	NCBI36
NG_008935.1:g.87972G>C , LRG_287:g.87972G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380776.5:n.218G>C
ENST00000496887.7:c.160G>C	ENSP00000434560.2:p.Val54Leu
ENST00000646564.2:c.421G>C	ENSP00000495806.2:p.Val141Leu
ENST00000155840.12:c.421G>C MANE Select	ENSP00000155840.2:p.Val141Leu
ENST00000335475.6:c.40G>C	ENSP00000334497.5:p.Val14Leu
ENST00000646564.1:c.67G>C	ENSP00000495806.1:p.Val23Leu
ENST00000155840.9:c.421G>C	ENSP00000155840.2:p.Val141Leu
ENST00000335475.5:c.40G>C	ENSP00000334497.5:p.Val14Leu
ENST00000345015.4:n.290G>C
ENST00000380776.4:c.211G>C	ENSP00000370153.4:p.Val71Leu
ENST00000496887.6:c.160G>C	ENSP00000434560.1:p.Val54Leu
NM_000218.2:c.421G>C , LRG_287t1:c.421G>C	NP_000209.2:p.Val141Leu
NM_181798.1:c.40G>C , LRG_287t2:c.40G>C	NP_861463.1:p.Val14Leu
NM_000218.3:c.421G>C MANE Select	NP_000209.2:p.Val141Leu