Canonical Allele Identifier: CA379131793

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 859740
• ClinVar RCV Id: RCV001065918
• dbSNP Id: rs120074195
• MyVariant Identifiers: chr11:g.2594214G>T (hg19) ; chr11:g.2572984G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572984G>T , CM000673.2:g.2572984G>T	GRCh38
NC_000011.9:g.2594214G>T , CM000673.1:g.2594214G>T	GRCh37
NC_000011.8:g.2550790G>T	NCBI36
NG_008935.1:g.132994G>T , LRG_287:g.132994G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.658G>T	ENSP00000434560.2:p.Val220Leu
ENST00000646564.2:c.478-10451G>T	ENSP00000495806.2:n.478-10451G>T
ENST00000155840.12:c.919G>T MANE Select	ENSP00000155840.2:p.Val307Leu
ENST00000335475.6:c.538G>T	ENSP00000334497.5:p.Val180Leu
ENST00000646564.1:c.124-10451G>T	ENSP00000495806.1:n.124-10451G>T
ENST00000155840.9:c.919G>T	ENSP00000155840.2:p.Val307Leu
ENST00000335475.5:c.538G>T	ENSP00000334497.5:p.Val180Leu
NM_000218.2:c.919G>T , LRG_287t1:c.919G>T	NP_000209.2:p.Val307Leu
NM_181798.1:c.538G>T , LRG_287t2:c.538G>T	NP_861463.1:p.Val180Leu
NM_000218.3:c.919G>T MANE Select	NP_000209.2:p.Val307Leu