Canonical Allele Identifier: CA369852482

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947332-T-A
• MyVariant Identifiers: chr7:g.150644420T>A (hg19) ; chr7:g.150947332T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947332T>A , CM000669.2:g.150947332T>A	GRCh38
NC_000007.13:g.150644420T>A , CM000669.1:g.150644420T>A	GRCh37
NC_000007.12:g.150275353T>A	NCBI36
NG_008916.1:g.35595A>T , LRG_288:g.35595A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3981A>T
ENST00000262186.10:c.3148A>T MANE Select	ENSP00000262186.5:p.Asn1050Tyr
ENST00000330883.9:c.2128A>T	ENSP00000328531.4:p.Asn710Tyr
ENST00000262186.9:c.3148A>T	ENSP00000262186.5:p.Asn1050Tyr
ENST00000330883.8:c.2128A>T	ENSP00000328531.4:p.Asn710Tyr
NM_000238.3:c.3148A>T , LRG_288t1:c.3148A>T	NP_000229.1:p.Asn1050Tyr
NM_172057.2:c.2128A>T , LRG_288t3:c.2128A>T	NP_742054.1:p.Asn710Tyr
XM_011516185.1:c.2848A>T	XP_011514487.1:p.Asn950Tyr
XM_011516185.2:c.2848A>T	XP_011514487.1:p.Asn950Tyr
XM_017012195.1:c.2998A>T	XP_016867684.1:p.Asn1000Tyr
XM_017012196.1:c.2971A>T	XP_016867685.1:p.Asn991Tyr
NM_000238.4:c.3148A>T MANE Select	NP_000229.1:p.Asn1050Tyr
NM_172057.3:c.2128A>T	NP_742054.1:p.Asn710Tyr