Canonical Allele Identifier: CA379139775

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2502702
• ClinVar RCV Id: RCV003229375
• MyVariant Identifiers: chr11:g.2799254G>T (hg19) ; chr11:g.2778024G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778024G>T , CM000673.2:g.2778024G>T	GRCh38
NC_000011.9:g.2799254G>T , CM000673.1:g.2799254G>T	GRCh37
NC_000011.8:g.2755830G>T	NCBI36
NG_008935.1:g.338034G>T , LRG_287:g.338034G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1424G>T	ENSP00000434560.2:p.Arg475Leu
ENST00000646564.2:c.1241G>T	ENSP00000495806.2:p.Arg414Leu
ENST00000155840.12:c.1781G>T MANE Select	ENSP00000155840.2:p.Arg594Leu
ENST00000335475.6:c.1400G>T	ENSP00000334497.5:p.Arg467Leu
ENST00000526095.2:c.185G>T	ENSP00000494939.1:p.Arg62Leu
ENST00000646564.1:c.887G>T	ENSP00000495806.1:p.Arg296Leu
ENST00000155840.9:c.1781G>T	ENSP00000155840.2:p.Arg594Leu
ENST00000335475.5:c.1400G>T	ENSP00000334497.5:p.Arg467Leu
ENST00000526095.1:n.288G>T
NM_000218.2:c.1781G>T , LRG_287t1:c.1781G>T	NP_000209.2:p.Arg594Leu
NM_181798.1:c.1400G>T , LRG_287t2:c.1400G>T	NP_861463.1:p.Arg467Leu
NM_000218.3:c.1781G>T MANE Select	NP_000209.2:p.Arg594Leu