Canonical Allele Identifier: CA369853233

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 979134
• ClinVar RCV Id: RCV001258205
• dbSNP Id: rs1800962566
• gnomAD v4: 7-150947701-G-A
• MyVariant Identifiers: chr7:g.150644789G>A (hg19) ; chr7:g.150947701G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947701G>A , CM000669.2:g.150947701G>A	GRCh38
NC_000007.13:g.150644789G>A , CM000669.1:g.150644789G>A	GRCh37
NC_000007.12:g.150275722G>A	NCBI36
NG_008916.1:g.35226C>T , LRG_288:g.35226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3703C>T
ENST00000262186.10:c.2870C>T MANE Select	ENSP00000262186.5:p.Pro957Leu
ENST00000330883.9:c.1850C>T	ENSP00000328531.4:p.Pro617Leu
ENST00000262186.9:c.2870C>T	ENSP00000262186.5:p.Pro957Leu
ENST00000330883.8:c.1850C>T	ENSP00000328531.4:p.Pro617Leu
NM_000238.3:c.2870C>T , LRG_288t1:c.2870C>T	NP_000229.1:p.Pro957Leu
NM_172057.2:c.1850C>T , LRG_288t3:c.1850C>T	NP_742054.1:p.Pro617Leu
XM_011516185.1:c.2570C>T	XP_011514487.1:p.Pro857Leu
XM_011516186.1:c.2693-10C>T	XP_011514488.1:n.2693-10C>T
XM_011516185.2:c.2570C>T	XP_011514487.1:p.Pro857Leu
XM_011516186.3:c.2693-10C>T	XP_011514488.1:n.2693-10C>T
XM_017012195.1:c.2720C>T	XP_016867684.1:p.Pro907Leu
XM_017012196.1:c.2693C>T	XP_016867685.1:p.Pro898Leu
NM_000238.4:c.2870C>T MANE Select	NP_000229.1:p.Pro957Leu
NM_172057.3:c.1850C>T	NP_742054.1:p.Pro617Leu