Canonical Allele Identifier: CA008928

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67537
• ClinVar RCV Id: RCV000058266 ; RCV000820872 ; RCV002483102 ; RCV003162450
• dbSNP Id: rs199472881
• gnomAD v3: 7-150958103-A-G
• gnomAD v4: 7-150958103-A-G
• MyVariant Identifiers: chr7:g.150655191A>G (hg19) ; chr7:g.150958103A>G (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958103A>G , CM000669.2:g.150958103A>G	GRCh38
NC_000007.13:g.150655191A>G , CM000669.1:g.150655191A>G	GRCh37
NC_000007.12:g.150286124A>G	NCBI36
NG_008916.1:g.24824T>C , LRG_288:g.24824T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1705T>C
ENST00000262186.10:c.872T>C MANE Select	ENSP00000262186.5:p.Met291Thr
ENST00000262186.9:c.872T>C	ENSP00000262186.5:p.Met291Thr
ENST00000430723.4:c.524T>C	ENSP00000387657.4:p.Met175Thr
ENST00000532957.5:n.1095T>C
NM_000238.3:c.872T>C , LRG_288t1:c.872T>C	NP_000229.1:p.Met291Thr
NM_172056.2:c.872T>C , LRG_288t2:c.872T>C	NP_742053.1:p.Met291Thr
XM_011516185.1:c.572T>C	XP_011514487.1:p.Met191Thr
XM_011516186.1:c.872T>C	XP_011514488.1:p.Met291Thr
XM_011516185.2:c.572T>C	XP_011514487.1:p.Met191Thr
XM_011516186.3:c.872T>C	XP_011514488.1:p.Met291Thr
XM_017012195.1:c.722T>C	XP_016867684.1:p.Met241Thr
XM_017012196.1:c.695T>C	XP_016867685.1:p.Met232Thr
NM_000238.4:c.872T>C MANE Select	NP_000229.1:p.Met291Thr