Canonical Allele Identifier: CA369857670

Gene: KCNH2

Linked Data

• dbSNP Id: rs1286224531
• gnomAD v2: 7-150648149-C-G
• gnomAD v4: 7-150951061-C-G
• MyVariant Identifiers: chr7:g.150648149C>G (hg19) ; chr7:g.150951061C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951061C>G , CM000669.2:g.150951061C>G	GRCh38
NC_000007.13:g.150648149C>G , CM000669.1:g.150648149C>G	GRCh37
NC_000007.12:g.150279082C>G	NCBI36
NG_008916.1:g.31866G>C , LRG_288:g.31866G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1303G>C
ENST00000683359.1:n.129G>C
ENST00000684241.1:n.2838G>C
ENST00000262186.10:c.2005G>C MANE Select	ENSP00000262186.5:p.Gly669Arg
ENST00000330883.9:c.985G>C	ENSP00000328531.4:p.Gly329Arg
ENST00000262186.9:c.2005G>C	ENSP00000262186.5:p.Gly669Arg
ENST00000330883.8:c.985G>C	ENSP00000328531.4:p.Gly329Arg
ENST00000430723.4:c.1657G>C	ENSP00000387657.4:p.Gly553Arg
ENST00000461280.1:n.1292G>C
ENST00000473610.5:n.1637G>C
ENST00000532957.5:n.2228G>C
NM_000238.3:c.2005G>C , LRG_288t1:c.2005G>C	NP_000229.1:p.Gly669Arg
NM_001204798.1:c.985G>C	NP_001191727.1:p.Gly329Arg
NM_172056.2:c.2005G>C , LRG_288t2:c.2005G>C	NP_742053.1:p.Gly669Arg
NM_172057.2:c.985G>C , LRG_288t3:c.985G>C	NP_742054.1:p.Gly329Arg
XM_011516185.1:c.1705G>C	XP_011514487.1:p.Gly569Arg
XM_011516186.1:c.2005G>C	XP_011514488.1:p.Gly669Arg
XM_011516185.2:c.1705G>C	XP_011514487.1:p.Gly569Arg
XM_011516186.3:c.2005G>C	XP_011514488.1:p.Gly669Arg
XM_017012195.1:c.1855G>C	XP_016867684.1:p.Gly619Arg
XM_017012196.1:c.1828G>C	XP_016867685.1:p.Gly610Arg
NM_000238.4:c.2005G>C MANE Select	NP_000229.1:p.Gly669Arg
NM_001204798.2:c.985G>C	NP_001191727.1:p.Gly329Arg
NM_172057.3:c.985G>C	NP_742054.1:p.Gly329Arg