Canonical Allele Identifier: CA458644785

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644417T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947329T>G , CM000669.2:g.150947329T>G	GRCh38
NC_000007.13:g.150644417T>G , CM000669.1:g.150644417T>G	GRCh37
NC_000007.12:g.150275350T>G	NCBI36
NG_008916.1:g.35598A>C , LRG_288:g.35598A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3984A>C
ENST00000262186.10:c.3151A>C MANE Select	ENSP00000262186.5:p.Arg1051=
ENST00000330883.9:c.2131A>C	ENSP00000328531.4:p.Arg711=
ENST00000262186.9:c.3151A>C	ENSP00000262186.5:p.Arg1051=
ENST00000330883.8:c.2131A>C	ENSP00000328531.4:p.Arg711=
NM_000238.3:c.3151A>C , LRG_288t1:c.3151A>C	NP_000229.1:p.Arg1051=
NM_172057.2:c.2131A>C , LRG_288t3:c.2131A>C	NP_742054.1:p.Arg711=
XM_011516185.1:c.2851A>C	XP_011514487.1:p.Arg951=
XM_011516185.2:c.2851A>C	XP_011514487.1:p.Arg951=
XM_017012195.1:c.3001A>C	XP_016867684.1:p.Arg1001=
XM_017012196.1:c.2974A>C	XP_016867685.1:p.Arg992=
NM_000238.4:c.3151A>C MANE Select	NP_000229.1:p.Arg1051=
NM_172057.3:c.2131A>C	NP_742054.1:p.Arg711=