Canonical Allele Identifier: CA10581151

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 234996
• ClinVar RCV Id: RCV000223929 ; RCV000464070 ; RCV000617874 ; RCV001546262
• dbSNP Id: rs876661348
• MyVariant Identifiers: chr7:g.150648676A>G (hg19) ; chr7:g.150951588A>G (hg38)
• PubMed: PMID:26066609

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951588A>G , CM000669.2:g.150951588A>G	GRCh38
NC_000007.13:g.150648676A>G , CM000669.1:g.150648676A>G	GRCh37
NC_000007.12:g.150279609A>G	NCBI36
NG_008916.1:g.31339T>C , LRG_288:g.31339T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1103T>C
ENST00000684241.1:n.2638T>C
ENST00000262186.10:c.1805T>C MANE Select	ENSP00000262186.5:p.Leu602Pro
ENST00000330883.9:c.785T>C	ENSP00000328531.4:p.Leu262Pro
ENST00000262186.9:c.1805T>C	ENSP00000262186.5:p.Leu602Pro
ENST00000330883.8:c.785T>C	ENSP00000328531.4:p.Leu262Pro
ENST00000430723.4:c.1457T>C	ENSP00000387657.4:p.Leu486Pro
ENST00000461280.1:n.1092T>C
ENST00000473610.5:n.1110T>C
ENST00000532957.5:n.2028T>C
NM_000238.3:c.1805T>C , LRG_288t1:c.1805T>C	NP_000229.1:p.Leu602Pro
NM_001204798.1:c.785T>C	NP_001191727.1:p.Leu262Pro
NM_172056.2:c.1805T>C , LRG_288t2:c.1805T>C	NP_742053.1:p.Leu602Pro
NM_172057.2:c.785T>C , LRG_288t3:c.785T>C	NP_742054.1:p.Leu262Pro
XM_011516185.1:c.1505T>C	XP_011514487.1:p.Leu502Pro
XM_011516186.1:c.1805T>C	XP_011514488.1:p.Leu602Pro
XM_011516185.2:c.1505T>C	XP_011514487.1:p.Leu502Pro
XM_011516186.3:c.1805T>C	XP_011514488.1:p.Leu602Pro
XM_017012195.1:c.1655T>C	XP_016867684.1:p.Leu552Pro
XM_017012196.1:c.1628T>C	XP_016867685.1:p.Leu543Pro
NM_000238.4:c.1805T>C MANE Select	NP_000229.1:p.Leu602Pro
NM_001204798.2:c.785T>C	NP_001191727.1:p.Leu262Pro
NM_172057.3:c.785T>C	NP_742054.1:p.Leu262Pro