Canonical Allele Identifier: CA458871484

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2884937
• ClinVar RCV Id: RCV003648751
• dbSNP Id: rs2116959929
• gnomAD v4: 7-150951521-A-G
• MyVariant Identifiers: chr7:g.150648609A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951521A>G , CM000669.2:g.150951521A>G	GRCh38
NC_000007.13:g.150648609A>G , CM000669.1:g.150648609A>G	GRCh37
NC_000007.12:g.150279542A>G	NCBI36
NG_008916.1:g.31406T>C , LRG_288:g.31406T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1170T>C
ENST00000684241.1:n.2705T>C
ENST00000262186.10:c.1872T>C MANE Select	ENSP00000262186.5:p.Ser624=
ENST00000330883.9:c.852T>C	ENSP00000328531.4:p.Ser284=
ENST00000262186.9:c.1872T>C	ENSP00000262186.5:p.Ser624=
ENST00000330883.8:c.852T>C	ENSP00000328531.4:p.Ser284=
ENST00000430723.4:c.1524T>C	ENSP00000387657.4:p.Ser508=
ENST00000461280.1:n.1159T>C
ENST00000473610.5:n.1177T>C
ENST00000532957.5:n.2095T>C
NM_000238.3:c.1872T>C , LRG_288t1:c.1872T>C	NP_000229.1:p.Ser624=
NM_001204798.1:c.852T>C	NP_001191727.1:p.Ser284=
NM_172056.2:c.1872T>C , LRG_288t2:c.1872T>C	NP_742053.1:p.Ser624=
NM_172057.2:c.852T>C , LRG_288t3:c.852T>C	NP_742054.1:p.Ser284=
XM_011516185.1:c.1572T>C	XP_011514487.1:p.Ser524=
XM_011516186.1:c.1872T>C	XP_011514488.1:p.Ser624=
XM_011516185.2:c.1572T>C	XP_011514487.1:p.Ser524=
XM_011516186.3:c.1872T>C	XP_011514488.1:p.Ser624=
XM_017012195.1:c.1722T>C	XP_016867684.1:p.Ser574=
XM_017012196.1:c.1695T>C	XP_016867685.1:p.Ser565=
NM_000238.4:c.1872T>C MANE Select	NP_000229.1:p.Ser624=
NM_001204798.2:c.852T>C	NP_001191727.1:p.Ser284=
NM_172057.3:c.852T>C	NP_742054.1:p.Ser284=