Canonical Allele Identifier: CA369855012

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2165581
• ClinVar RCV Id: RCV003084444
• MyVariant Identifiers: chr7:g.150646028G>C (hg19) ; chr7:g.150948940G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948940G>C , CM000669.2:g.150948940G>C	GRCh38
NC_000007.13:g.150646028G>C , CM000669.1:g.150646028G>C	GRCh37
NC_000007.12:g.150276961G>C	NCBI36
NG_008916.1:g.33987C>G , LRG_288:g.33987C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3341C>G
ENST00000262186.10:c.2508C>G MANE Select	ENSP00000262186.5:p.Asp836Glu
ENST00000330883.9:c.1488C>G	ENSP00000328531.4:p.Asp496Glu
ENST00000262186.9:c.2508C>G	ENSP00000262186.5:p.Asp836Glu
ENST00000330883.8:c.1488C>G	ENSP00000328531.4:p.Asp496Glu
NM_000238.3:c.2508C>G , LRG_288t1:c.2508C>G	NP_000229.1:p.Asp836Glu
NM_172057.2:c.1488C>G , LRG_288t3:c.1488C>G	NP_742054.1:p.Asp496Glu
XM_011516185.1:c.2208C>G	XP_011514487.1:p.Asp736Glu
XM_011516186.1:c.2508C>G	XP_011514488.1:p.Asp836Glu
XM_011516185.2:c.2208C>G	XP_011514487.1:p.Asp736Glu
XM_011516186.3:c.2508C>G	XP_011514488.1:p.Asp836Glu
XM_017012195.1:c.2358C>G	XP_016867684.1:p.Asp786Glu
XM_017012196.1:c.2331C>G	XP_016867685.1:p.Asp777Glu
NM_000238.4:c.2508C>G MANE Select	NP_000229.1:p.Asp836Glu
NM_172057.3:c.1488C>G	NP_742054.1:p.Asp496Glu