Canonical Allele Identifier: CA6553216

Gene: KCNH3

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49544303C>T , CM000674.2:g.49544303C>T	GRCh38
NC_000012.11:g.49938086C>T , CM000674.1:g.49938086C>T	GRCh37
NC_000012.10:g.48224353C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257981.7:c.1110C>T MANE Select	ENSP00000257981.5:p.Leu370=
ENST00000649994.1:c.*720C>T	ENSP00000497890.1:n.*720C>T
ENST00000257981.6:c.1110C>T	ENSP00000257981.5:p.Leu370=
ENST00000551415.1:n.50C>T
NM_001314030.1:c.930C>T	NP_001300959.1:p.Leu310=
NM_012284.1:c.1110C>T	NP_036416.1:p.Leu370=
NM_012284.2:c.1110C>T	NP_036416.1:p.Leu370=
XM_006719313.2:c.1110C>T	XP_006719376.1:p.Leu370=
XM_011538085.1:c.1110C>T	XP_011536387.1:p.Leu370=
XM_011538086.1:c.930C>T	XP_011536388.1:p.Leu310=
XM_011538087.1:c.492C>T	XP_011536389.1:p.Leu164=
XM_011538088.1:c.492C>T	XP_011536390.1:p.Leu164=
XM_011538085.2:c.1110C>T	XP_011536387.1:p.Leu370=
XM_011538086.2:c.930C>T	XP_011536388.1:p.Leu310=
XM_017019096.1:c.876C>T	XP_016874585.1:p.Leu292=
XM_017019097.1:c.21C>T	XP_016874586.1:p.Leu7=
XR_001748644.1:n.1986C>T
NM_012284.3:c.1110C>T MANE Select	NP_036416.1:p.Leu370=
NM_001314030.2:c.930C>T	NP_001300959.1:p.Leu310=