Canonical Allele Identifier: CA369862061

Gene: KCNH2

Linked Data

• dbSNP Id: rs1274167865
• gnomAD v2: 7-150655153-T-G
• gnomAD v4: 7-150958065-T-G
• MyVariant Identifiers: chr7:g.150655153T>G (hg19) ; chr7:g.150958065T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958065T>G , CM000669.2:g.150958065T>G	GRCh38
NC_000007.13:g.150655153T>G , CM000669.1:g.150655153T>G	GRCh37
NC_000007.12:g.150286086T>G	NCBI36
NG_008916.1:g.24862A>C , LRG_288:g.24862A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1743A>C
ENST00000262186.10:c.910A>C MANE Select	ENSP00000262186.5:p.Ser304Arg
ENST00000262186.9:c.910A>C	ENSP00000262186.5:p.Ser304Arg
ENST00000430723.4:c.562A>C	ENSP00000387657.4:p.Ser188Arg
ENST00000532957.5:n.1133A>C
NM_000238.3:c.910A>C , LRG_288t1:c.910A>C	NP_000229.1:p.Ser304Arg
NM_172056.2:c.910A>C , LRG_288t2:c.910A>C	NP_742053.1:p.Ser304Arg
XM_011516185.1:c.610A>C	XP_011514487.1:p.Ser204Arg
XM_011516186.1:c.910A>C	XP_011514488.1:p.Ser304Arg
XM_011516185.2:c.610A>C	XP_011514487.1:p.Ser204Arg
XM_011516186.3:c.910A>C	XP_011514488.1:p.Ser304Arg
XM_017012195.1:c.760A>C	XP_016867684.1:p.Ser254Arg
XM_017012196.1:c.733A>C	XP_016867685.1:p.Ser245Arg
NM_000238.4:c.910A>C MANE Select	NP_000229.1:p.Ser304Arg