Canonical Allele Identifier: CA369851410

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150642490T>A (hg19) ; chr7:g.150945402T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945402T>A , CM000669.2:g.150945402T>A	GRCh38
NC_000007.13:g.150642490T>A , CM000669.1:g.150642490T>A	GRCh37
NC_000007.12:g.150273423T>A	NCBI36
NG_008916.1:g.37525A>T , LRG_288:g.37525A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4276A>T
ENST00000262186.10:c.3443A>T MANE Select	ENSP00000262186.5:p.Gln1148Leu
ENST00000330883.9:c.2423A>T	ENSP00000328531.4:p.Gln808Leu
ENST00000262186.9:c.3443A>T	ENSP00000262186.5:p.Gln1148Leu
ENST00000330883.8:c.2423A>T	ENSP00000328531.4:p.Gln808Leu
NM_000238.3:c.3443A>T , LRG_288t1:c.3443A>T	NP_000229.1:p.Gln1148Leu
NM_172057.2:c.2423A>T , LRG_288t3:c.2423A>T	NP_742054.1:p.Gln808Leu
XM_011516185.1:c.3143A>T	XP_011514487.1:p.Gln1048Leu
XM_011516185.2:c.3143A>T	XP_011514487.1:p.Gln1048Leu
XM_017012195.1:c.3293A>T	XP_016867684.1:p.Gln1098Leu
XM_017012196.1:c.3266A>T	XP_016867685.1:p.Gln1089Leu
NM_000238.4:c.3443A>T MANE Select	NP_000229.1:p.Gln1148Leu
NM_172057.3:c.2423A>T	NP_742054.1:p.Gln808Leu