Canonical Allele Identifier: CA369853738

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948486-G-A
• MyVariant Identifiers: chr7:g.150645574G>A (hg19) ; chr7:g.150948486G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948486G>A , CM000669.2:g.150948486G>A	GRCh38
NC_000007.13:g.150645574G>A , CM000669.1:g.150645574G>A	GRCh37
NC_000007.12:g.150276507G>A	NCBI36
NG_008916.1:g.34441C>T , LRG_288:g.34441C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3483C>T
ENST00000262186.10:c.2650C>T MANE Select	ENSP00000262186.5:p.Gln884Ter
ENST00000330883.9:c.1630C>T	ENSP00000328531.4:p.Gln544Ter
ENST00000262186.9:c.2650C>T	ENSP00000262186.5:p.Gln884Ter
ENST00000330883.8:c.1630C>T	ENSP00000328531.4:p.Gln544Ter
NM_000238.3:c.2650C>T , LRG_288t1:c.2650C>T	NP_000229.1:p.Gln884Ter
NM_172057.2:c.1630C>T , LRG_288t3:c.1630C>T	NP_742054.1:p.Gln544Ter
XM_011516185.1:c.2350C>T	XP_011514487.1:p.Gln784Ter
XM_011516186.1:c.2650C>T	XP_011514488.1:p.Gln884Ter
XM_011516185.2:c.2350C>T	XP_011514487.1:p.Gln784Ter
XM_011516186.3:c.2650C>T	XP_011514488.1:p.Gln884Ter
XM_017012195.1:c.2500C>T	XP_016867684.1:p.Gln834Ter
XM_017012196.1:c.2473C>T	XP_016867685.1:p.Gln825Ter
NM_000238.4:c.2650C>T MANE Select	NP_000229.1:p.Gln884Ter
NM_172057.3:c.1630C>T	NP_742054.1:p.Gln544Ter