Canonical Allele Identifier: CA16612301

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 405353
• ClinVar RCV Id: RCV000459672
• dbSNP Id: rs1060500669
• MyVariant Identifiers: chr7:g.150645999G>A (hg19) ; chr7:g.150948911G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948911G>A , CM000669.2:g.150948911G>A	GRCh38
NC_000007.13:g.150645999G>A , CM000669.1:g.150645999G>A	GRCh37
NC_000007.12:g.150276932G>A	NCBI36
NG_008916.1:g.34016C>T , LRG_288:g.34016C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3370C>T
ENST00000262186.10:c.2537C>T MANE Select	ENSP00000262186.5:p.Pro846Leu
ENST00000330883.9:c.1517C>T	ENSP00000328531.4:p.Pro506Leu
ENST00000262186.9:c.2537C>T	ENSP00000262186.5:p.Pro846Leu
ENST00000330883.8:c.1517C>T	ENSP00000328531.4:p.Pro506Leu
NM_000238.3:c.2537C>T , LRG_288t1:c.2537C>T	NP_000229.1:p.Pro846Leu
NM_172057.2:c.1517C>T , LRG_288t3:c.1517C>T	NP_742054.1:p.Pro506Leu
XM_011516185.1:c.2237C>T	XP_011514487.1:p.Pro746Leu
XM_011516186.1:c.2537C>T	XP_011514488.1:p.Pro846Leu
XM_011516185.2:c.2237C>T	XP_011514487.1:p.Pro746Leu
XM_011516186.3:c.2537C>T	XP_011514488.1:p.Pro846Leu
XM_017012195.1:c.2387C>T	XP_016867684.1:p.Pro796Leu
XM_017012196.1:c.2360C>T	XP_016867685.1:p.Pro787Leu
NM_000238.4:c.2537C>T MANE Select	NP_000229.1:p.Pro846Leu
NM_172057.3:c.1517C>T	NP_742054.1:p.Pro506Leu