Canonical Allele Identifier: CA369858891

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648819C>A (hg19) ; chr7:g.150951731C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951731C>A , CM000669.2:g.150951731C>A	GRCh38
NC_000007.13:g.150648819C>A , CM000669.1:g.150648819C>A	GRCh37
NC_000007.12:g.150279752C>A	NCBI36
NG_008916.1:g.31196G>T , LRG_288:g.31196G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.960G>T
ENST00000684116.1:n.555G>T
ENST00000684241.1:n.2495G>T
ENST00000262186.10:c.1662G>T MANE Select	ENSP00000262186.5:p.Met554Ile
ENST00000330883.9:c.642G>T	ENSP00000328531.4:p.Met214Ile
ENST00000262186.9:c.1662G>T	ENSP00000262186.5:p.Met554Ile
ENST00000330883.8:c.642G>T	ENSP00000328531.4:p.Met214Ile
ENST00000430723.4:c.1314G>T	ENSP00000387657.4:p.Met438Ile
ENST00000461280.1:n.949G>T
ENST00000473610.5:n.967G>T
ENST00000532957.5:n.1885G>T
NM_000238.3:c.1662G>T , LRG_288t1:c.1662G>T	NP_000229.1:p.Met554Ile
NM_001204798.1:c.642G>T	NP_001191727.1:p.Met214Ile
NM_172056.2:c.1662G>T , LRG_288t2:c.1662G>T	NP_742053.1:p.Met554Ile
NM_172057.2:c.642G>T , LRG_288t3:c.642G>T	NP_742054.1:p.Met214Ile
XM_011516185.1:c.1362G>T	XP_011514487.1:p.Met454Ile
XM_011516186.1:c.1662G>T	XP_011514488.1:p.Met554Ile
XM_011516185.2:c.1362G>T	XP_011514487.1:p.Met454Ile
XM_011516186.3:c.1662G>T	XP_011514488.1:p.Met554Ile
XM_017012195.1:c.1512G>T	XP_016867684.1:p.Met504Ile
XM_017012196.1:c.1485G>T	XP_016867685.1:p.Met495Ile
NM_000238.4:c.1662G>T MANE Select	NP_000229.1:p.Met554Ile
NM_001204798.2:c.642G>T	NP_001191727.1:p.Met214Ile
NM_172057.3:c.642G>T	NP_742054.1:p.Met214Ile