Canonical Allele Identifier: CA369861657

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654495G>A (hg19) ; chr7:g.150957407G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957407G>A , CM000669.2:g.150957407G>A	GRCh38
NC_000007.13:g.150654495G>A , CM000669.1:g.150654495G>A	GRCh37
NC_000007.12:g.150285428G>A	NCBI36
NG_008916.1:g.25520C>T , LRG_288:g.25520C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1845C>T
ENST00000262186.10:c.1012C>T MANE Select	ENSP00000262186.5:p.Leu338Phe
ENST00000262186.9:c.1012C>T	ENSP00000262186.5:p.Leu338Phe
ENST00000430723.4:c.664C>T	ENSP00000387657.4:p.Leu222Phe
ENST00000532957.5:n.1235C>T
NM_000238.3:c.1012C>T , LRG_288t1:c.1012C>T	NP_000229.1:p.Leu338Phe
NM_172056.2:c.1012C>T , LRG_288t2:c.1012C>T	NP_742053.1:p.Leu338Phe
XM_011516185.1:c.712C>T	XP_011514487.1:p.Leu238Phe
XM_011516186.1:c.1012C>T	XP_011514488.1:p.Leu338Phe
XM_011516185.2:c.712C>T	XP_011514487.1:p.Leu238Phe
XM_011516186.3:c.1012C>T	XP_011514488.1:p.Leu338Phe
XM_017012195.1:c.862C>T	XP_016867684.1:p.Leu288Phe
XM_017012196.1:c.835C>T	XP_016867685.1:p.Leu279Phe
NM_000238.4:c.1012C>T MANE Select	NP_000229.1:p.Leu338Phe