Canonical Allele Identifier: CA458645150

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150646019C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948931C>G , CM000669.2:g.150948931C>G	GRCh38
NC_000007.13:g.150646019C>G , CM000669.1:g.150646019C>G	GRCh37
NC_000007.12:g.150276952C>G	NCBI36
NG_008916.1:g.33996G>C , LRG_288:g.33996G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3350G>C
ENST00000262186.10:c.2517G>C MANE Select	ENSP00000262186.5:p.Leu839=
ENST00000330883.9:c.1497G>C	ENSP00000328531.4:p.Leu499=
ENST00000262186.9:c.2517G>C	ENSP00000262186.5:p.Leu839=
ENST00000330883.8:c.1497G>C	ENSP00000328531.4:p.Leu499=
NM_000238.3:c.2517G>C , LRG_288t1:c.2517G>C	NP_000229.1:p.Leu839=
NM_172057.2:c.1497G>C , LRG_288t3:c.1497G>C	NP_742054.1:p.Leu499=
XM_011516185.1:c.2217G>C	XP_011514487.1:p.Leu739=
XM_011516186.1:c.2517G>C	XP_011514488.1:p.Leu839=
XM_011516185.2:c.2217G>C	XP_011514487.1:p.Leu739=
XM_011516186.3:c.2517G>C	XP_011514488.1:p.Leu839=
XM_017012195.1:c.2367G>C	XP_016867684.1:p.Leu789=
XM_017012196.1:c.2340G>C	XP_016867685.1:p.Leu780=
NM_000238.4:c.2517G>C MANE Select	NP_000229.1:p.Leu839=
NM_172057.3:c.1497G>C	NP_742054.1:p.Leu499=