Canonical Allele Identifier: CA458646789

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150655508C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958420C>G , CM000669.2:g.150958420C>G	GRCh38
NC_000007.13:g.150655508C>G , CM000669.1:g.150655508C>G	GRCh37
NC_000007.12:g.150286441C>G	NCBI36
NG_008916.1:g.24507G>C , LRG_288:g.24507G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1388G>C
ENST00000262186.10:c.555G>C MANE Select	ENSP00000262186.5:p.Ala185=
ENST00000262186.9:c.555G>C	ENSP00000262186.5:p.Ala185=
ENST00000430723.4:c.235-28G>C	ENSP00000387657.4:n.235-28G>C
ENST00000532957.5:n.778G>C
NM_000238.3:c.555G>C , LRG_288t1:c.555G>C	NP_000229.1:p.Ala185=
NM_172056.2:c.555G>C , LRG_288t2:c.555G>C	NP_742053.1:p.Ala185=
XM_011516185.1:c.255G>C	XP_011514487.1:p.Ala85=
XM_011516186.1:c.555G>C	XP_011514488.1:p.Ala185=
XM_011516185.2:c.255G>C	XP_011514487.1:p.Ala85=
XM_011516186.3:c.555G>C	XP_011514488.1:p.Ala185=
XM_017012195.1:c.405G>C	XP_016867684.1:p.Ala135=
XM_017012196.1:c.378G>C	XP_016867685.1:p.Ala126=
NM_000238.4:c.555G>C MANE Select	NP_000229.1:p.Ala185=