Canonical Allele Identifier: CA369855270

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150646092G>A (hg19) ; chr7:g.150949004G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949004G>A , CM000669.2:g.150949004G>A	GRCh38
NC_000007.13:g.150646092G>A , CM000669.1:g.150646092G>A	GRCh37
NC_000007.12:g.150277025G>A	NCBI36
NG_008916.1:g.33923C>T , LRG_288:g.33923C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3277C>T
ENST00000262186.10:c.2444C>T MANE Select	ENSP00000262186.5:p.Pro815Leu
ENST00000330883.9:c.1424C>T	ENSP00000328531.4:p.Pro475Leu
ENST00000262186.9:c.2444C>T	ENSP00000262186.5:p.Pro815Leu
ENST00000330883.8:c.1424C>T	ENSP00000328531.4:p.Pro475Leu
NM_000238.3:c.2444C>T , LRG_288t1:c.2444C>T	NP_000229.1:p.Pro815Leu
NM_172057.2:c.1424C>T , LRG_288t3:c.1424C>T	NP_742054.1:p.Pro475Leu
XM_011516185.1:c.2144C>T	XP_011514487.1:p.Pro715Leu
XM_011516186.1:c.2444C>T	XP_011514488.1:p.Pro815Leu
XM_011516185.2:c.2144C>T	XP_011514487.1:p.Pro715Leu
XM_011516186.3:c.2444C>T	XP_011514488.1:p.Pro815Leu
XM_017012195.1:c.2294C>T	XP_016867684.1:p.Pro765Leu
XM_017012196.1:c.2267C>T	XP_016867685.1:p.Pro756Leu
NM_000238.4:c.2444C>T MANE Select	NP_000229.1:p.Pro815Leu
NM_172057.3:c.1424C>T	NP_742054.1:p.Pro475Leu