Canonical Allele Identifier: CA369862549

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 495747
• ClinVar RCV Id: RCV000587153 ; RCV002404592 ; RCV002491163 ; RCV001853975
• dbSNP Id: rs1367019959
• gnomAD v2: 7-150655290-G-A
• gnomAD v3: 7-150958202-G-A
• gnomAD v4: 7-150958202-G-A
• MyVariant Identifiers: chr7:g.150655290G>A (hg19) ; chr7:g.150958202G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958202G>A , CM000669.2:g.150958202G>A	GRCh38
NC_000007.13:g.150655290G>A , CM000669.1:g.150655290G>A	GRCh37
NC_000007.12:g.150286223G>A	NCBI36
NG_008916.1:g.24725C>T , LRG_288:g.24725C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1606C>T
ENST00000262186.10:c.773C>T MANE Select	ENSP00000262186.5:p.Pro258Leu
ENST00000262186.9:c.773C>T	ENSP00000262186.5:p.Pro258Leu
ENST00000430723.4:c.425C>T	ENSP00000387657.4:p.Pro142Leu
ENST00000532957.5:n.996C>T
NM_000238.3:c.773C>T , LRG_288t1:c.773C>T	NP_000229.1:p.Pro258Leu
NM_172056.2:c.773C>T , LRG_288t2:c.773C>T	NP_742053.1:p.Pro258Leu
XM_011516185.1:c.473C>T	XP_011514487.1:p.Pro158Leu
XM_011516186.1:c.773C>T	XP_011514488.1:p.Pro258Leu
XM_011516185.2:c.473C>T	XP_011514487.1:p.Pro158Leu
XM_011516186.3:c.773C>T	XP_011514488.1:p.Pro258Leu
XM_017012195.1:c.623C>T	XP_016867684.1:p.Pro208Leu
XM_017012196.1:c.596C>T	XP_016867685.1:p.Pro199Leu
NM_000238.4:c.773C>T MANE Select	NP_000229.1:p.Pro258Leu