Canonical Allele Identifier: CA458872098

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150655316T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958228T>G , CM000669.2:g.150958228T>G	GRCh38
NC_000007.13:g.150655316T>G , CM000669.1:g.150655316T>G	GRCh37
NC_000007.12:g.150286249T>G	NCBI36
NG_008916.1:g.24699A>C , LRG_288:g.24699A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1580A>C
ENST00000262186.10:c.747A>C MANE Select	ENSP00000262186.5:p.Pro249=
ENST00000262186.9:c.747A>C	ENSP00000262186.5:p.Pro249=
ENST00000430723.4:c.399A>C	ENSP00000387657.4:p.Pro133=
ENST00000532957.5:n.970A>C
NM_000238.3:c.747A>C , LRG_288t1:c.747A>C	NP_000229.1:p.Pro249=
NM_172056.2:c.747A>C , LRG_288t2:c.747A>C	NP_742053.1:p.Pro249=
XM_011516185.1:c.447A>C	XP_011514487.1:p.Pro149=
XM_011516186.1:c.747A>C	XP_011514488.1:p.Pro249=
XM_011516185.2:c.447A>C	XP_011514487.1:p.Pro149=
XM_011516186.3:c.747A>C	XP_011514488.1:p.Pro249=
XM_017012195.1:c.597A>C	XP_016867684.1:p.Pro199=
XM_017012196.1:c.570A>C	XP_016867685.1:p.Pro190=
NM_000238.4:c.747A>C MANE Select	NP_000229.1:p.Pro249=