Canonical Allele Identifier: CA070331

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150952511-C-A
• MyVariant Identifiers: chr7:g.150649599C>A (hg19) ; chr7:g.150952511C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952511C>A , CM000669.2:g.150952511C>A	GRCh38
NC_000007.13:g.150649599C>A , CM000669.1:g.150649599C>A	GRCh37
NC_000007.12:g.150280532C>A	NCBI36
NG_008916.1:g.30416G>T , LRG_288:g.30416G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.769G>T
ENST00000684116.1:n.364G>T
ENST00000684241.1:n.2304G>T
ENST00000262186.10:c.1471G>T MANE Select	ENSP00000262186.5:p.Val491Phe
ENST00000330883.9:c.451G>T	ENSP00000328531.4:p.Val151Phe
ENST00000262186.9:c.1471G>T	ENSP00000262186.5:p.Val491Phe
ENST00000330883.8:c.451G>T	ENSP00000328531.4:p.Val151Phe
ENST00000430723.4:c.1123G>T	ENSP00000387657.4:p.Val375Phe
ENST00000461280.1:n.758G>T
ENST00000473610.5:n.776G>T
ENST00000532957.5:n.1694G>T
NM_000238.3:c.1471G>T , LRG_288t1:c.1471G>T	NP_000229.1:p.Val491Phe
NM_001204798.1:c.451G>T	NP_001191727.1:p.Val151Phe
NM_172056.2:c.1471G>T , LRG_288t2:c.1471G>T	NP_742053.1:p.Val491Phe
NM_172057.2:c.451G>T , LRG_288t3:c.451G>T	NP_742054.1:p.Val151Phe
XM_011516185.1:c.1171G>T	XP_011514487.1:p.Val391Phe
XM_011516186.1:c.1471G>T	XP_011514488.1:p.Val491Phe
XM_011516185.2:c.1171G>T	XP_011514487.1:p.Val391Phe
XM_011516186.3:c.1471G>T	XP_011514488.1:p.Val491Phe
XM_017012195.1:c.1321G>T	XP_016867684.1:p.Val441Phe
XM_017012196.1:c.1294G>T	XP_016867685.1:p.Val432Phe
NM_000238.4:c.1471G>T MANE Select	NP_000229.1:p.Val491Phe
NM_001204798.2:c.451G>T	NP_001191727.1:p.Val151Phe
NM_172057.3:c.451G>T	NP_742054.1:p.Val151Phe