Canonical Allele Identifier: CA369853447

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644900C>A (hg19) ; chr7:g.150947812C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947812C>A , CM000669.2:g.150947812C>A	GRCh38
NC_000007.13:g.150644900C>A , CM000669.1:g.150644900C>A	GRCh37
NC_000007.12:g.150275833C>A	NCBI36
NG_008916.1:g.35115G>T , LRG_288:g.35115G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3592G>T
ENST00000262186.10:c.2759G>T MANE Select	ENSP00000262186.5:p.Arg920Leu
ENST00000330883.9:c.1739G>T	ENSP00000328531.4:p.Arg580Leu
ENST00000262186.9:c.2759G>T	ENSP00000262186.5:p.Arg920Leu
ENST00000330883.8:c.1739G>T	ENSP00000328531.4:p.Arg580Leu
NM_000238.3:c.2759G>T , LRG_288t1:c.2759G>T	NP_000229.1:p.Arg920Leu
NM_172057.2:c.1739G>T , LRG_288t3:c.1739G>T	NP_742054.1:p.Arg580Leu
XM_011516185.1:c.2459G>T	XP_011514487.1:p.Arg820Leu
XM_011516186.1:c.2693-121G>T	XP_011514488.1:n.2693-121G>T
XM_011516185.2:c.2459G>T	XP_011514487.1:p.Arg820Leu
XM_011516186.3:c.2693-121G>T	XP_011514488.1:n.2693-121G>T
XM_017012195.1:c.2609G>T	XP_016867684.1:p.Arg870Leu
XM_017012196.1:c.2582G>T	XP_016867685.1:p.Arg861Leu
NM_000238.4:c.2759G>T MANE Select	NP_000229.1:p.Arg920Leu
NM_172057.3:c.1739G>T	NP_742054.1:p.Arg580Leu