Canonical Allele Identifier: CA458646060

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654532C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957444C>G , CM000669.2:g.150957444C>G	GRCh38
NC_000007.13:g.150654532C>G , CM000669.1:g.150654532C>G	GRCh37
NC_000007.12:g.150285465C>G	NCBI36
NG_008916.1:g.25483G>C , LRG_288:g.25483G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1808G>C
ENST00000262186.10:c.975G>C MANE Select	ENSP00000262186.5:p.Val325=
ENST00000262186.9:c.975G>C	ENSP00000262186.5:p.Val325=
ENST00000430723.4:c.627G>C	ENSP00000387657.4:p.Val209=
ENST00000532957.5:n.1198G>C
NM_000238.3:c.975G>C , LRG_288t1:c.975G>C	NP_000229.1:p.Val325=
NM_172056.2:c.975G>C , LRG_288t2:c.975G>C	NP_742053.1:p.Val325=
XM_011516185.1:c.675G>C	XP_011514487.1:p.Val225=
XM_011516186.1:c.975G>C	XP_011514488.1:p.Val325=
XM_011516185.2:c.675G>C	XP_011514487.1:p.Val225=
XM_011516186.3:c.975G>C	XP_011514488.1:p.Val325=
XM_017012195.1:c.825G>C	XP_016867684.1:p.Val275=
XM_017012196.1:c.798G>C	XP_016867685.1:p.Val266=
NM_000238.4:c.975G>C MANE Select	NP_000229.1:p.Val325=