Canonical Allele Identifier: CA379129804

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570634G>T , CM000673.2:g.2570634G>T	GRCh38
NC_000011.9:g.2591864G>T , CM000673.1:g.2591864G>T	GRCh37
NC_000011.8:g.2548440G>T	NCBI36
NG_008935.1:g.130644G>T , LRG_287:g.130644G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.484G>T MANE Select	NP_000209.2:p.Val162Leu
ENST00000155840.12:c.484G>T MANE Select	ENSP00000155840.2:p.Val162Leu
NM_000218.2:c.484G>T , LRG_287t1:c.484G>T	NP_000209.2:p.Val162Leu
NM_181798.1:c.103G>T , LRG_287t2:c.103G>T	NP_861463.1:p.Val35Leu
ENST00000155840.9:c.484G>T	ENSP00000155840.2:p.Val162Leu
ENST00000335475.5:c.103G>T	ENSP00000334497.5:p.Val35Leu
ENST00000335475.6:c.103G>T	ENSP00000334497.5:p.Val35Leu
ENST00000496887.6:c.223G>T	ENSP00000434560.1:p.Val75Leu
ENST00000496887.7:c.223G>T	ENSP00000434560.2:p.Val75Leu
ENST00000646564.1:c.124-12801G>T	ENSP00000495806.1:n.124-12801G>T
ENST00000646564.2:c.478-12801G>T	ENSP00000495806.2:n.478-12801G>T