Canonical Allele Identifier: CA369863009

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150655423C>G (hg19) ; chr7:g.150958335C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958335C>G , CM000669.2:g.150958335C>G	GRCh38
NC_000007.13:g.150655423C>G , CM000669.1:g.150655423C>G	GRCh37
NC_000007.12:g.150286356C>G	NCBI36
NG_008916.1:g.24592G>C , LRG_288:g.24592G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1473G>C
ENST00000262186.10:c.640G>C MANE Select	ENSP00000262186.5:p.Glu214Gln
ENST00000262186.9:c.640G>C	ENSP00000262186.5:p.Glu214Gln
ENST00000430723.4:c.292G>C	ENSP00000387657.4:p.Glu98Gln
ENST00000532957.5:n.863G>C
NM_000238.3:c.640G>C , LRG_288t1:c.640G>C	NP_000229.1:p.Glu214Gln
NM_172056.2:c.640G>C , LRG_288t2:c.640G>C	NP_742053.1:p.Glu214Gln
XM_011516185.1:c.340G>C	XP_011514487.1:p.Glu114Gln
XM_011516186.1:c.640G>C	XP_011514488.1:p.Glu214Gln
XM_011516185.2:c.340G>C	XP_011514487.1:p.Glu114Gln
XM_011516186.3:c.640G>C	XP_011514488.1:p.Glu214Gln
XM_017012195.1:c.490G>C	XP_016867684.1:p.Glu164Gln
XM_017012196.1:c.463G>C	XP_016867685.1:p.Glu155Gln
NM_000238.4:c.640G>C MANE Select	NP_000229.1:p.Glu214Gln