Canonical Allele Identifier: CA369852901

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947455-A-T
• MyVariant Identifiers: chr7:g.150644543A>T (hg19) ; chr7:g.150947455A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947455A>T , CM000669.2:g.150947455A>T	GRCh38
NC_000007.13:g.150644543A>T , CM000669.1:g.150644543A>T	GRCh37
NC_000007.12:g.150275476A>T	NCBI36
NG_008916.1:g.35472T>A , LRG_288:g.35472T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3858T>A
ENST00000262186.10:c.3025T>A MANE Select	ENSP00000262186.5:p.Tyr1009Asn
ENST00000330883.9:c.2005T>A	ENSP00000328531.4:p.Tyr669Asn
ENST00000262186.9:c.3025T>A	ENSP00000262186.5:p.Tyr1009Asn
ENST00000330883.8:c.2005T>A	ENSP00000328531.4:p.Tyr669Asn
NM_000238.3:c.3025T>A , LRG_288t1:c.3025T>A	NP_000229.1:p.Tyr1009Asn
NM_172057.2:c.2005T>A , LRG_288t3:c.2005T>A	NP_742054.1:p.Tyr669Asn
XM_011516185.1:c.2725T>A	XP_011514487.1:p.Tyr909Asn
XM_011516186.1:c.*105T>A	XP_011514488.1:n.*105T>A
XM_011516185.2:c.2725T>A	XP_011514487.1:p.Tyr909Asn
XM_011516186.3:c.*105T>A	XP_011514488.1:n.*105T>A
XM_017012195.1:c.2875T>A	XP_016867684.1:p.Tyr959Asn
XM_017012196.1:c.2848T>A	XP_016867685.1:p.Tyr950Asn
NM_000238.4:c.3025T>A MANE Select	NP_000229.1:p.Tyr1009Asn
NM_172057.3:c.2005T>A	NP_742054.1:p.Tyr669Asn