Canonical Allele Identifier: CA458645127

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2567291
• ClinVar RCV Id: RCV003311168
• MyVariant Identifiers: chr7:g.150645970G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948882G>A , CM000669.2:g.150948882G>A	GRCh38
NC_000007.13:g.150645970G>A , CM000669.1:g.150645970G>A	GRCh37
NC_000007.12:g.150276903G>A	NCBI36
NG_008916.1:g.34045C>T , LRG_288:g.34045C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3399C>T
ENST00000262186.10:c.2566C>T MANE Select	ENSP00000262186.5:p.Leu856=
ENST00000330883.9:c.1546C>T	ENSP00000328531.4:p.Leu516=
ENST00000262186.9:c.2566C>T	ENSP00000262186.5:p.Leu856=
ENST00000330883.8:c.1546C>T	ENSP00000328531.4:p.Leu516=
NM_000238.3:c.2566C>T , LRG_288t1:c.2566C>T	NP_000229.1:p.Leu856=
NM_172057.2:c.1546C>T , LRG_288t3:c.1546C>T	NP_742054.1:p.Leu516=
XM_011516185.1:c.2266C>T	XP_011514487.1:p.Leu756=
XM_011516186.1:c.2566C>T	XP_011514488.1:p.Leu856=
XM_011516185.2:c.2266C>T	XP_011514487.1:p.Leu756=
XM_011516186.3:c.2566C>T	XP_011514488.1:p.Leu856=
XM_017012195.1:c.2416C>T	XP_016867684.1:p.Leu806=
XM_017012196.1:c.2389C>T	XP_016867685.1:p.Leu797=
NM_000238.4:c.2566C>T MANE Select	NP_000229.1:p.Leu856=
NM_172057.3:c.1546C>T	NP_742054.1:p.Leu516=