Canonical Allele Identifier: CA458870948

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644785G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947697G>A , CM000669.2:g.150947697G>A	GRCh38
NC_000007.13:g.150644785G>A , CM000669.1:g.150644785G>A	GRCh37
NC_000007.12:g.150275718G>A	NCBI36
NG_008916.1:g.35230C>T , LRG_288:g.35230C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3707C>T
ENST00000262186.10:c.2874C>T MANE Select	ENSP00000262186.5:p.Phe958=
ENST00000330883.9:c.1854C>T	ENSP00000328531.4:p.Phe618=
ENST00000262186.9:c.2874C>T	ENSP00000262186.5:p.Phe958=
ENST00000330883.8:c.1854C>T	ENSP00000328531.4:p.Phe618=
NM_000238.3:c.2874C>T , LRG_288t1:c.2874C>T	NP_000229.1:p.Phe958=
NM_172057.2:c.1854C>T , LRG_288t3:c.1854C>T	NP_742054.1:p.Phe618=
XM_011516185.1:c.2574C>T	XP_011514487.1:p.Phe858=
XM_011516186.1:c.2693-6C>T	XP_011514488.1:n.2693-6C>T
XM_011516185.2:c.2574C>T	XP_011514487.1:p.Phe858=
XM_011516186.3:c.2693-6C>T	XP_011514488.1:n.2693-6C>T
XM_017012195.1:c.2724C>T	XP_016867684.1:p.Phe908=
XM_017012196.1:c.2697C>T	XP_016867685.1:p.Phe899=
NM_000238.4:c.2874C>T MANE Select	NP_000229.1:p.Phe958=
NM_172057.3:c.1854C>T	NP_742054.1:p.Phe618=