Canonical Allele Identifier: CA004378

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67177
• ClinVar RCV Id: RCV000057884 ; RCV002247455
• dbSNP Id: rs199472837
• MyVariant Identifiers: chr7:g.150671979A>C (hg19) ; chr7:g.150974891A>C (hg38)
• PubMed: PMID:18441445 ; PMID:19419905 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974891A>C , CM000669.2:g.150974891A>C	GRCh38
NC_000007.13:g.150671979A>C , CM000669.1:g.150671979A>C	GRCh37
NC_000007.12:g.150302912A>C	NCBI36
NG_008916.1:g.8036T>G , LRG_288:g.8036T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.127T>G MANE Select	ENSP00000262186.5:p.Tyr43Asp
ENST00000262186.9:c.127T>G	ENSP00000262186.5:p.Tyr43Asp
ENST00000430723.4:c.-51T>G	ENSP00000387657.4:n.-51T>G
ENST00000532957.5:n.350T>G
NM_000238.3:c.127T>G , LRG_288t1:c.127T>G	NP_000229.1:p.Tyr43Asp
NM_172056.2:c.127T>G , LRG_288t2:c.127T>G	NP_742053.1:p.Tyr43Asp
XM_011516186.1:c.127T>G	XP_011514488.1:p.Tyr43Asp
XM_011516186.3:c.127T>G	XP_011514488.1:p.Tyr43Asp
XM_017012196.1:c.-51T>G	XP_016867685.1:n.-51T>G
NM_000238.4:c.127T>G MANE Select	NP_000229.1:p.Tyr43Asp