Canonical Allele Identifier: CA369857910

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 618184
• ClinVar RCV Id: RCV000756284
• dbSNP Id: rs1563156725
• MyVariant Identifiers: chr7:g.150648608C>G (hg19) ; chr7:g.150951520C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951520C>G , CM000669.2:g.150951520C>G	GRCh38
NC_000007.13:g.150648608C>G , CM000669.1:g.150648608C>G	GRCh37
NC_000007.12:g.150279541C>G	NCBI36
NG_008916.1:g.31407G>C , LRG_288:g.31407G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1171G>C
ENST00000684241.1:n.2706G>C
ENST00000262186.10:c.1873G>C MANE Select	ENSP00000262186.5:p.Val625Leu
ENST00000330883.9:c.853G>C	ENSP00000328531.4:p.Val285Leu
ENST00000262186.9:c.1873G>C	ENSP00000262186.5:p.Val625Leu
ENST00000330883.8:c.853G>C	ENSP00000328531.4:p.Val285Leu
ENST00000430723.4:c.1525G>C	ENSP00000387657.4:p.Val509Leu
ENST00000461280.1:n.1160G>C
ENST00000473610.5:n.1178G>C
ENST00000532957.5:n.2096G>C
NM_000238.3:c.1873G>C , LRG_288t1:c.1873G>C	NP_000229.1:p.Val625Leu
NM_001204798.1:c.853G>C	NP_001191727.1:p.Val285Leu
NM_172056.2:c.1873G>C , LRG_288t2:c.1873G>C	NP_742053.1:p.Val625Leu
NM_172057.2:c.853G>C , LRG_288t3:c.853G>C	NP_742054.1:p.Val285Leu
XM_011516185.1:c.1573G>C	XP_011514487.1:p.Val525Leu
XM_011516186.1:c.1873G>C	XP_011514488.1:p.Val625Leu
XM_011516185.2:c.1573G>C	XP_011514487.1:p.Val525Leu
XM_011516186.3:c.1873G>C	XP_011514488.1:p.Val625Leu
XM_017012195.1:c.1723G>C	XP_016867684.1:p.Val575Leu
XM_017012196.1:c.1696G>C	XP_016867685.1:p.Val566Leu
NM_000238.4:c.1873G>C MANE Select	NP_000229.1:p.Val625Leu
NM_001204798.2:c.853G>C	NP_001191727.1:p.Val285Leu
NM_172057.3:c.853G>C	NP_742054.1:p.Val285Leu