Canonical Allele Identifier: CA004589

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200340
• ClinVar RCV Id: RCV000181790 ; RCV003335180 ; RCV003532021
• dbSNP Id: rs794728369
• MyVariant Identifiers: chr7:g.150649655C>G (hg19) ; chr7:g.150952567C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952567C>G , CM000669.2:g.150952567C>G	GRCh38
NC_000007.13:g.150649655C>G , CM000669.1:g.150649655C>G	GRCh37
NC_000007.12:g.150280588C>G	NCBI36
NG_008916.1:g.30360G>C , LRG_288:g.30360G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.713G>C
ENST00000684116.1:n.308G>C
ENST00000684241.1:n.2248G>C
ENST00000262186.10:c.1415G>C MANE Select	ENSP00000262186.5:p.Arg472Pro
ENST00000330883.9:c.395G>C	ENSP00000328531.4:p.Arg132Pro
ENST00000262186.9:c.1415G>C	ENSP00000262186.5:p.Arg472Pro
ENST00000330883.8:c.395G>C	ENSP00000328531.4:p.Arg132Pro
ENST00000430723.4:c.1067G>C	ENSP00000387657.4:p.Arg356Pro
ENST00000461280.1:n.702G>C
ENST00000473610.5:n.720G>C
ENST00000532957.5:n.1638G>C
NM_000238.3:c.1415G>C , LRG_288t1:c.1415G>C	NP_000229.1:p.Arg472Pro
NM_001204798.1:c.395G>C	NP_001191727.1:p.Arg132Pro
NM_172056.2:c.1415G>C , LRG_288t2:c.1415G>C	NP_742053.1:p.Arg472Pro
NM_172057.2:c.395G>C , LRG_288t3:c.395G>C	NP_742054.1:p.Arg132Pro
XM_011516185.1:c.1115G>C	XP_011514487.1:p.Arg372Pro
XM_011516186.1:c.1415G>C	XP_011514488.1:p.Arg472Pro
XM_011516185.2:c.1115G>C	XP_011514487.1:p.Arg372Pro
XM_011516186.3:c.1415G>C	XP_011514488.1:p.Arg472Pro
XM_017012195.1:c.1265G>C	XP_016867684.1:p.Arg422Pro
XM_017012196.1:c.1238G>C	XP_016867685.1:p.Arg413Pro
NM_000238.4:c.1415G>C MANE Select	NP_000229.1:p.Arg472Pro
NM_001204798.2:c.395G>C	NP_001191727.1:p.Arg132Pro
NM_172057.3:c.395G>C	NP_742054.1:p.Arg132Pro