Canonical Allele Identifier: CA072571

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649793G>A (hg19) ; chr7:g.150952705G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952705G>A , CM000669.2:g.150952705G>A	GRCh38
NC_000007.13:g.150649793G>A , CM000669.1:g.150649793G>A	GRCh37
NC_000007.12:g.150280726G>A	NCBI36
NG_008916.1:g.30222C>T , LRG_288:g.30222C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.575C>T
ENST00000684116.1:n.170C>T
ENST00000684241.1:n.2110C>T
ENST00000262186.10:c.1277C>T MANE Select	ENSP00000262186.5:p.Pro426Leu
ENST00000330883.9:c.257C>T	ENSP00000328531.4:p.Pro86Leu
ENST00000262186.9:c.1277C>T	ENSP00000262186.5:p.Pro426Leu
ENST00000330883.8:c.257C>T	ENSP00000328531.4:p.Pro86Leu
ENST00000430723.4:c.929C>T	ENSP00000387657.4:p.Pro310Leu
ENST00000461280.1:n.564C>T
ENST00000473610.5:n.582C>T
ENST00000532957.5:n.1500C>T
NM_000238.3:c.1277C>T , LRG_288t1:c.1277C>T	NP_000229.1:p.Pro426Leu
NM_001204798.1:c.257C>T	NP_001191727.1:p.Pro86Leu
NM_172056.2:c.1277C>T , LRG_288t2:c.1277C>T	NP_742053.1:p.Pro426Leu
NM_172057.2:c.257C>T , LRG_288t3:c.257C>T	NP_742054.1:p.Pro86Leu
XM_011516185.1:c.977C>T	XP_011514487.1:p.Pro326Leu
XM_011516186.1:c.1277C>T	XP_011514488.1:p.Pro426Leu
XM_011516185.2:c.977C>T	XP_011514487.1:p.Pro326Leu
XM_011516186.3:c.1277C>T	XP_011514488.1:p.Pro426Leu
XM_017012195.1:c.1127C>T	XP_016867684.1:p.Pro376Leu
XM_017012196.1:c.1100C>T	XP_016867685.1:p.Pro367Leu
NM_000238.4:c.1277C>T MANE Select	NP_000229.1:p.Pro426Leu
NM_001204798.2:c.257C>T	NP_001191727.1:p.Pro86Leu
NM_172057.3:c.257C>T	NP_742054.1:p.Pro86Leu