Canonical Allele Identifier: CA369852760

Gene: KCNH2

Linked Data

• dbSNP Id: rs1800942388
• gnomAD v4: 7-150947415-A-C
• MyVariant Identifiers: chr7:g.150644503A>C (hg19) ; chr7:g.150947415A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947415A>C , CM000669.2:g.150947415A>C	GRCh38
NC_000007.13:g.150644503A>C , CM000669.1:g.150644503A>C	GRCh37
NC_000007.12:g.150275436A>C	NCBI36
NG_008916.1:g.35512T>G , LRG_288:g.35512T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3898T>G
ENST00000262186.10:c.3065T>G MANE Select	ENSP00000262186.5:p.Leu1022Arg
ENST00000330883.9:c.2045T>G	ENSP00000328531.4:p.Leu682Arg
ENST00000262186.9:c.3065T>G	ENSP00000262186.5:p.Leu1022Arg
ENST00000330883.8:c.2045T>G	ENSP00000328531.4:p.Leu682Arg
NM_000238.3:c.3065T>G , LRG_288t1:c.3065T>G	NP_000229.1:p.Leu1022Arg
NM_172057.2:c.2045T>G , LRG_288t3:c.2045T>G	NP_742054.1:p.Leu682Arg
XM_011516185.1:c.2765T>G	XP_011514487.1:p.Leu922Arg
XM_011516185.2:c.2765T>G	XP_011514487.1:p.Leu922Arg
XM_017012195.1:c.2915T>G	XP_016867684.1:p.Leu972Arg
XM_017012196.1:c.2888T>G	XP_016867685.1:p.Leu963Arg
NM_000238.4:c.3065T>G MANE Select	NP_000229.1:p.Leu1022Arg
NM_172057.3:c.2045T>G	NP_742054.1:p.Leu682Arg