Canonical Allele Identifier: CA369854749

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150645966T>G (hg19) ; chr7:g.150948878T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948878T>G , CM000669.2:g.150948878T>G	GRCh38
NC_000007.13:g.150645966T>G , CM000669.1:g.150645966T>G	GRCh37
NC_000007.12:g.150276899T>G	NCBI36
NG_008916.1:g.34049A>C , LRG_288:g.34049A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3403A>C
ENST00000262186.10:c.2570A>C MANE Select	ENSP00000262186.5:p.Glu857Ala
ENST00000330883.9:c.1550A>C	ENSP00000328531.4:p.Glu517Ala
ENST00000262186.9:c.2570A>C	ENSP00000262186.5:p.Glu857Ala
ENST00000330883.8:c.1550A>C	ENSP00000328531.4:p.Glu517Ala
NM_000238.3:c.2570A>C , LRG_288t1:c.2570A>C	NP_000229.1:p.Glu857Ala
NM_172057.2:c.1550A>C , LRG_288t3:c.1550A>C	NP_742054.1:p.Glu517Ala
XM_011516185.1:c.2270A>C	XP_011514487.1:p.Glu757Ala
XM_011516186.1:c.2570A>C	XP_011514488.1:p.Glu857Ala
XM_011516185.2:c.2270A>C	XP_011514487.1:p.Glu757Ala
XM_011516186.3:c.2570A>C	XP_011514488.1:p.Glu857Ala
XM_017012195.1:c.2420A>C	XP_016867684.1:p.Glu807Ala
XM_017012196.1:c.2393A>C	XP_016867685.1:p.Glu798Ala
NM_000238.4:c.2570A>C MANE Select	NP_000229.1:p.Glu857Ala
NM_172057.3:c.1550A>C	NP_742054.1:p.Glu517Ala