Canonical Allele Identifier: CA379131047

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2593322G>C (hg19) ; chr11:g.2572092G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572092G>C , CM000673.2:g.2572092G>C	GRCh38
NC_000011.9:g.2593322G>C , CM000673.1:g.2593322G>C	GRCh37
NC_000011.8:g.2549898G>C	NCBI36
NG_008935.1:g.132102G>C , LRG_287:g.132102G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.502G>C	ENSP00000434560.2:p.Val168Leu
ENST00000646564.2:c.478-11343G>C	ENSP00000495806.2:n.478-11343G>C
ENST00000155840.12:c.763G>C MANE Select	ENSP00000155840.2:p.Val255Leu
ENST00000335475.6:c.382G>C	ENSP00000334497.5:p.Val128Leu
ENST00000646564.1:c.124-11343G>C	ENSP00000495806.1:n.124-11343G>C
ENST00000155840.9:c.763G>C	ENSP00000155840.2:p.Val255Leu
ENST00000335475.5:c.382G>C	ENSP00000334497.5:p.Val128Leu
ENST00000496887.6:c.502G>C	ENSP00000434560.1:p.Val168Leu
NM_000218.2:c.763G>C , LRG_287t1:c.763G>C	NP_000209.2:p.Val255Leu
NM_181798.1:c.382G>C , LRG_287t2:c.382G>C	NP_861463.1:p.Val128Leu
NM_000218.3:c.763G>C MANE Select	NP_000209.2:p.Val255Leu