Canonical Allele Identifier: CA369852264

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 446417
• ClinVar RCV Id: RCV000515684
• dbSNP Id: rs1554423863
• MyVariant Identifiers: chr7:g.150644093G>A (hg19) ; chr7:g.150947005G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947005G>A , CM000669.2:g.150947005G>A	GRCh38
NC_000007.13:g.150644093G>A , CM000669.1:g.150644093G>A	GRCh37
NC_000007.12:g.150275026G>A	NCBI36
NG_008916.1:g.35922C>T , LRG_288:g.35922C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.4035C>T
ENST00000262186.10:c.3202C>T MANE Select	ENSP00000262186.5:p.Gln1068Ter
ENST00000330883.9:c.2182C>T	ENSP00000328531.4:p.Gln728Ter
ENST00000262186.9:c.3202C>T	ENSP00000262186.5:p.Gln1068Ter
ENST00000330883.8:c.2182C>T	ENSP00000328531.4:p.Gln728Ter
NM_000238.3:c.3202C>T , LRG_288t1:c.3202C>T	NP_000229.1:p.Gln1068Ter
NM_172057.2:c.2182C>T , LRG_288t3:c.2182C>T	NP_742054.1:p.Gln728Ter
XM_011516185.1:c.2902C>T	XP_011514487.1:p.Gln968Ter
XM_011516185.2:c.2902C>T	XP_011514487.1:p.Gln968Ter
XM_017012195.1:c.3052C>T	XP_016867684.1:p.Gln1018Ter
XM_017012196.1:c.3025C>T	XP_016867685.1:p.Gln1009Ter
NM_000238.4:c.3202C>T MANE Select	NP_000229.1:p.Gln1068Ter
NM_172057.3:c.2182C>T	NP_742054.1:p.Gln728Ter