Canonical Allele Identifier: CA458871775

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1112525
• ClinVar RCV Id: RCV002377716
• dbSNP Id: rs1157638570
• gnomAD v4: 7-150958087-C-G
• MyVariant Identifiers: chr7:g.150655175C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958087C>G , CM000669.2:g.150958087C>G	GRCh38
NC_000007.13:g.150655175C>G , CM000669.1:g.150655175C>G	GRCh37
NC_000007.12:g.150286108C>G	NCBI36
NG_008916.1:g.24840G>C , LRG_288:g.24840G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1721G>C
ENST00000262186.10:c.888G>C MANE Select	ENSP00000262186.5:p.Leu296=
ENST00000262186.9:c.888G>C	ENSP00000262186.5:p.Leu296=
ENST00000430723.4:c.540G>C	ENSP00000387657.4:p.Leu180=
ENST00000532957.5:n.1111G>C
NM_000238.3:c.888G>C , LRG_288t1:c.888G>C	NP_000229.1:p.Leu296=
NM_172056.2:c.888G>C , LRG_288t2:c.888G>C	NP_742053.1:p.Leu296=
XM_011516185.1:c.588G>C	XP_011514487.1:p.Leu196=
XM_011516186.1:c.888G>C	XP_011514488.1:p.Leu296=
XM_011516185.2:c.588G>C	XP_011514487.1:p.Leu196=
XM_011516186.3:c.888G>C	XP_011514488.1:p.Leu296=
XM_017012195.1:c.738G>C	XP_016867684.1:p.Leu246=
XM_017012196.1:c.711G>C	XP_016867685.1:p.Leu237=
NM_000238.4:c.888G>C MANE Select	NP_000229.1:p.Leu296=