Canonical Allele Identifier: CA169082150

Gene: KCNH2

Linked Data

• dbSNP Id: rs1049758433
• gnomAD v2: 7-150656717-C-G
• gnomAD v4: 7-150959629-C-G
• MyVariant Identifiers: chr7:g.150656717C>G (hg19) ; chr7:g.150959629C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959629C>G , CM000669.2:g.150959629C>G	GRCh38
NC_000007.13:g.150656717C>G , CM000669.1:g.150656717C>G	GRCh37
NC_000007.12:g.150287650C>G	NCBI36
NG_008916.1:g.23298G>C , LRG_288:g.23298G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1248G>C
ENST00000262186.10:c.415G>C MANE Select	ENSP00000262186.5:p.Gly139Arg
ENST00000262186.9:c.415G>C	ENSP00000262186.5:p.Gly139Arg
ENST00000430723.4:c.234+4G>C	ENSP00000387657.4:n.234+4G>C
ENST00000532957.5:n.638G>C
NM_000238.3:c.415G>C , LRG_288t1:c.415G>C	NP_000229.1:p.Gly139Arg
NM_172056.2:c.415G>C , LRG_288t2:c.415G>C	NP_742053.1:p.Gly139Arg
XM_011516185.1:c.115G>C	XP_011514487.1:p.Gly39Arg
XM_011516186.1:c.415G>C	XP_011514488.1:p.Gly139Arg
XM_011516185.2:c.115G>C	XP_011514487.1:p.Gly39Arg
XM_011516186.3:c.415G>C	XP_011514488.1:p.Gly139Arg
XM_017012195.1:c.265G>C	XP_016867684.1:p.Gly89Arg
XM_017012196.1:c.238G>C	XP_016867685.1:p.Gly80Arg
NM_000238.4:c.415G>C MANE Select	NP_000229.1:p.Gly139Arg