Canonical Allele Identifier: CA369855402

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150646135T>G (hg19) ; chr7:g.150949047T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949047T>G , CM000669.2:g.150949047T>G	GRCh38
NC_000007.13:g.150646135T>G , CM000669.1:g.150646135T>G	GRCh37
NC_000007.12:g.150277068T>G	NCBI36
NG_008916.1:g.33880A>C , LRG_288:g.33880A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3234A>C
ENST00000262186.10:c.2401A>C MANE Select	ENSP00000262186.5:p.Lys801Gln
ENST00000330883.9:c.1381A>C	ENSP00000328531.4:p.Lys461Gln
ENST00000262186.9:c.2401A>C	ENSP00000262186.5:p.Lys801Gln
ENST00000330883.8:c.1381A>C	ENSP00000328531.4:p.Lys461Gln
NM_000238.3:c.2401A>C , LRG_288t1:c.2401A>C	NP_000229.1:p.Lys801Gln
NM_172057.2:c.1381A>C , LRG_288t3:c.1381A>C	NP_742054.1:p.Lys461Gln
XM_011516185.1:c.2101A>C	XP_011514487.1:p.Lys701Gln
XM_011516186.1:c.2401A>C	XP_011514488.1:p.Lys801Gln
XM_011516185.2:c.2101A>C	XP_011514487.1:p.Lys701Gln
XM_011516186.3:c.2401A>C	XP_011514488.1:p.Lys801Gln
XM_017012195.1:c.2251A>C	XP_016867684.1:p.Lys751Gln
XM_017012196.1:c.2224A>C	XP_016867685.1:p.Lys742Gln
NM_000238.4:c.2401A>C MANE Select	NP_000229.1:p.Lys801Gln
NM_172057.3:c.1381A>C	NP_742054.1:p.Lys461Gln