Canonical Allele Identifier: CA458644920

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644541G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947453G>A , CM000669.2:g.150947453G>A	GRCh38
NC_000007.13:g.150644541G>A , CM000669.1:g.150644541G>A	GRCh37
NC_000007.12:g.150275474G>A	NCBI36
NG_008916.1:g.35474C>T , LRG_288:g.35474C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3860C>T
ENST00000262186.10:c.3027C>T MANE Select	ENSP00000262186.5:p.Tyr1009=
ENST00000330883.9:c.2007C>T	ENSP00000328531.4:p.Tyr669=
ENST00000262186.9:c.3027C>T	ENSP00000262186.5:p.Tyr1009=
ENST00000330883.8:c.2007C>T	ENSP00000328531.4:p.Tyr669=
NM_000238.3:c.3027C>T , LRG_288t1:c.3027C>T	NP_000229.1:p.Tyr1009=
NM_172057.2:c.2007C>T , LRG_288t3:c.2007C>T	NP_742054.1:p.Tyr669=
XM_011516185.1:c.2727C>T	XP_011514487.1:p.Tyr909=
XM_011516186.1:c.*107C>T	XP_011514488.1:n.*107C>T
XM_011516185.2:c.2727C>T	XP_011514487.1:p.Tyr909=
XM_011516186.3:c.*107C>T	XP_011514488.1:n.*107C>T
XM_017012195.1:c.2877C>T	XP_016867684.1:p.Tyr959=
XM_017012196.1:c.2850C>T	XP_016867685.1:p.Tyr950=
NM_000238.4:c.3027C>T MANE Select	NP_000229.1:p.Tyr1009=
NM_172057.3:c.2007C>T	NP_742054.1:p.Tyr669=