Canonical Allele Identifier: CA369852847

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1513198
• ClinVar RCV Id: RCV002026051
• dbSNP Id: rs2116929940
• gnomAD v4: 7-150947442-G-C
• MyVariant Identifiers: chr7:g.150644530G>C (hg19) ; chr7:g.150947442G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947442G>C , CM000669.2:g.150947442G>C	GRCh38
NC_000007.13:g.150644530G>C , CM000669.1:g.150644530G>C	GRCh37
NC_000007.12:g.150275463G>C	NCBI36
NG_008916.1:g.35485C>G , LRG_288:g.35485C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3871C>G
ENST00000262186.10:c.3038C>G MANE Select	ENSP00000262186.5:p.Pro1013Arg
ENST00000330883.9:c.2018C>G	ENSP00000328531.4:p.Pro673Arg
ENST00000262186.9:c.3038C>G	ENSP00000262186.5:p.Pro1013Arg
ENST00000330883.8:c.2018C>G	ENSP00000328531.4:p.Pro673Arg
NM_000238.3:c.3038C>G , LRG_288t1:c.3038C>G	NP_000229.1:p.Pro1013Arg
NM_172057.2:c.2018C>G , LRG_288t3:c.2018C>G	NP_742054.1:p.Pro673Arg
XM_011516185.1:c.2738C>G	XP_011514487.1:p.Pro913Arg
XM_011516186.1:c.*118C>G	XP_011514488.1:n.*118C>G
XM_011516185.2:c.2738C>G	XP_011514487.1:p.Pro913Arg
XM_011516186.3:c.*118C>G	XP_011514488.1:n.*118C>G
XM_017012195.1:c.2888C>G	XP_016867684.1:p.Pro963Arg
XM_017012196.1:c.2861C>G	XP_016867685.1:p.Pro954Arg
NM_000238.4:c.3038C>G MANE Select	NP_000229.1:p.Pro1013Arg
NM_172057.3:c.2018C>G	NP_742054.1:p.Pro673Arg