Canonical Allele Identifier: CA004831

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67215
• ClinVar RCV Id: RCV000057924 ; RCV001267970 ; RCV001841702 ; RCV002399419
• dbSNP Id: rs199472842
• MyVariant Identifiers: chr7:g.150671949C>G (hg19) ; chr7:g.150974861C>G (hg38)
• PubMed: PMID:10187793 ; PMID:10973849 ; PMID:15840476 ; PMID:21536673 ; PMID:22396785 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974861C>G , CM000669.2:g.150974861C>G	GRCh38
NC_000007.13:g.150671949C>G , CM000669.1:g.150671949C>G	GRCh37
NC_000007.12:g.150302882C>G	NCBI36
NG_008916.1:g.8066G>C , LRG_288:g.8066G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.157G>C MANE Select	ENSP00000262186.5:p.Gly53Arg
ENST00000262186.9:c.157G>C	ENSP00000262186.5:p.Gly53Arg
ENST00000430723.4:c.-21G>C	ENSP00000387657.4:n.-21G>C
ENST00000532957.5:n.380G>C
NM_000238.3:c.157G>C , LRG_288t1:c.157G>C	NP_000229.1:p.Gly53Arg
NM_172056.2:c.157G>C , LRG_288t2:c.157G>C	NP_742053.1:p.Gly53Arg
XM_011516186.1:c.157G>C	XP_011514488.1:p.Gly53Arg
XM_011516186.3:c.157G>C	XP_011514488.1:p.Gly53Arg
XM_017012196.1:c.-21G>C	XP_016867685.1:n.-21G>C
NM_000238.4:c.157G>C MANE Select	NP_000229.1:p.Gly53Arg