Canonical Allele Identifier: CA458872111

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 700574
• ClinVar RCV Id: RCV001506186
• dbSNP Id: rs1584865603
• gnomAD v4: 7-150958231-G-C
• MyVariant Identifiers: chr7:g.150655319G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958231G>C , CM000669.2:g.150958231G>C	GRCh38
NC_000007.13:g.150655319G>C , CM000669.1:g.150655319G>C	GRCh37
NC_000007.12:g.150286252G>C	NCBI36
NG_008916.1:g.24696C>G , LRG_288:g.24696C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1577C>G
ENST00000262186.10:c.744C>G MANE Select	ENSP00000262186.5:p.Leu248=
ENST00000262186.9:c.744C>G	ENSP00000262186.5:p.Leu248=
ENST00000430723.4:c.396C>G	ENSP00000387657.4:p.Leu132=
ENST00000532957.5:n.967C>G
NM_000238.3:c.744C>G , LRG_288t1:c.744C>G	NP_000229.1:p.Leu248=
NM_172056.2:c.744C>G , LRG_288t2:c.744C>G	NP_742053.1:p.Leu248=
XM_011516185.1:c.444C>G	XP_011514487.1:p.Leu148=
XM_011516186.1:c.744C>G	XP_011514488.1:p.Leu248=
XM_011516185.2:c.444C>G	XP_011514487.1:p.Leu148=
XM_011516186.3:c.744C>G	XP_011514488.1:p.Leu248=
XM_017012195.1:c.594C>G	XP_016867684.1:p.Leu198=
XM_017012196.1:c.567C>G	XP_016867685.1:p.Leu189=
NM_000238.4:c.744C>G MANE Select	NP_000229.1:p.Leu248=