Canonical Allele Identifier: CA369862483

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1904402
• ClinVar RCV Id: RCV002574251
• gnomAD v4: 7-150958185-T-G
• MyVariant Identifiers: chr7:g.150655273T>G (hg19) ; chr7:g.150958185T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958185T>G , CM000669.2:g.150958185T>G	GRCh38
NC_000007.13:g.150655273T>G , CM000669.1:g.150655273T>G	GRCh37
NC_000007.12:g.150286206T>G	NCBI36
NG_008916.1:g.24742A>C , LRG_288:g.24742A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1623A>C
ENST00000262186.10:c.790A>C MANE Select	ENSP00000262186.5:p.Ser264Arg
ENST00000262186.9:c.790A>C	ENSP00000262186.5:p.Ser264Arg
ENST00000430723.4:c.442A>C	ENSP00000387657.4:p.Ser148Arg
ENST00000532957.5:n.1013A>C
NM_000238.3:c.790A>C , LRG_288t1:c.790A>C	NP_000229.1:p.Ser264Arg
NM_172056.2:c.790A>C , LRG_288t2:c.790A>C	NP_742053.1:p.Ser264Arg
XM_011516185.1:c.490A>C	XP_011514487.1:p.Ser164Arg
XM_011516186.1:c.790A>C	XP_011514488.1:p.Ser264Arg
XM_011516185.2:c.490A>C	XP_011514487.1:p.Ser164Arg
XM_011516186.3:c.790A>C	XP_011514488.1:p.Ser264Arg
XM_017012195.1:c.640A>C	XP_016867684.1:p.Ser214Arg
XM_017012196.1:c.613A>C	XP_016867685.1:p.Ser205Arg
NM_000238.4:c.790A>C MANE Select	NP_000229.1:p.Ser264Arg