Canonical Allele Identifier: CA369865393

Gene: KCNH2

Linked Data

• dbSNP Id: rs1299190345
• gnomAD v2: 7-150671834-T-C
• gnomAD v4: 7-150974746-T-C
• MyVariant Identifiers: chr7:g.150671834T>C (hg19) ; chr7:g.150974746T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974746T>C , CM000669.2:g.150974746T>C	GRCh38
NC_000007.13:g.150671834T>C , CM000669.1:g.150671834T>C	GRCh37
NC_000007.12:g.150302767T>C	NCBI36
NG_008916.1:g.8181A>G , LRG_288:g.8181A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.272A>G MANE Select	ENSP00000262186.5:p.Glu91Gly
ENST00000262186.9:c.272A>G	ENSP00000262186.5:p.Glu91Gly
ENST00000430723.4:c.95A>G	ENSP00000387657.4:p.Glu32Gly
ENST00000532957.5:n.495A>G
NM_000238.3:c.272A>G , LRG_288t1:c.272A>G	NP_000229.1:p.Glu91Gly
NM_172056.2:c.272A>G , LRG_288t2:c.272A>G	NP_742053.1:p.Glu91Gly
XM_011516186.1:c.272A>G	XP_011514488.1:p.Glu91Gly
XM_011516186.3:c.272A>G	XP_011514488.1:p.Glu91Gly
XM_017012196.1:c.95A>G	XP_016867685.1:p.Glu32Gly
NM_000238.4:c.272A>G MANE Select	NP_000229.1:p.Glu91Gly