Canonical Allele Identifier: CA369855344

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150646108T>C (hg19) ; chr7:g.150949020T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949020T>C , CM000669.2:g.150949020T>C	GRCh38
NC_000007.13:g.150646108T>C , CM000669.1:g.150646108T>C	GRCh37
NC_000007.12:g.150277041T>C	NCBI36
NG_008916.1:g.33907A>G , LRG_288:g.33907A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3261A>G
ENST00000262186.10:c.2428A>G MANE Select	ENSP00000262186.5:p.Asn810Asp
ENST00000330883.9:c.1408A>G	ENSP00000328531.4:p.Asn470Asp
ENST00000262186.9:c.2428A>G	ENSP00000262186.5:p.Asn810Asp
ENST00000330883.8:c.1408A>G	ENSP00000328531.4:p.Asn470Asp
NM_000238.3:c.2428A>G , LRG_288t1:c.2428A>G	NP_000229.1:p.Asn810Asp
NM_172057.2:c.1408A>G , LRG_288t3:c.1408A>G	NP_742054.1:p.Asn470Asp
XM_011516185.1:c.2128A>G	XP_011514487.1:p.Asn710Asp
XM_011516186.1:c.2428A>G	XP_011514488.1:p.Asn810Asp
XM_011516185.2:c.2128A>G	XP_011514487.1:p.Asn710Asp
XM_011516186.3:c.2428A>G	XP_011514488.1:p.Asn810Asp
XM_017012195.1:c.2278A>G	XP_016867684.1:p.Asn760Asp
XM_017012196.1:c.2251A>G	XP_016867685.1:p.Asn751Asp
NM_000238.4:c.2428A>G MANE Select	NP_000229.1:p.Asn810Asp
NM_172057.3:c.1408A>G	NP_742054.1:p.Asn470Asp