Canonical Allele Identifier: CA369861803

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654545T>G (hg19) ; chr7:g.150957457T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957457T>G , CM000669.2:g.150957457T>G	GRCh38
NC_000007.13:g.150654545T>G , CM000669.1:g.150654545T>G	GRCh37
NC_000007.12:g.150285478T>G	NCBI36
NG_008916.1:g.25470A>C , LRG_288:g.25470A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1795A>C
ENST00000262186.10:c.962A>C MANE Select	ENSP00000262186.5:p.Asp321Ala
ENST00000262186.9:c.962A>C	ENSP00000262186.5:p.Asp321Ala
ENST00000430723.4:c.614A>C	ENSP00000387657.4:p.Asp205Ala
ENST00000532957.5:n.1185A>C
NM_000238.3:c.962A>C , LRG_288t1:c.962A>C	NP_000229.1:p.Asp321Ala
NM_172056.2:c.962A>C , LRG_288t2:c.962A>C	NP_742053.1:p.Asp321Ala
XM_011516185.1:c.662A>C	XP_011514487.1:p.Asp221Ala
XM_011516186.1:c.962A>C	XP_011514488.1:p.Asp321Ala
XM_011516185.2:c.662A>C	XP_011514487.1:p.Asp221Ala
XM_011516186.3:c.962A>C	XP_011514488.1:p.Asp321Ala
XM_017012195.1:c.812A>C	XP_016867684.1:p.Asp271Ala
XM_017012196.1:c.785A>C	XP_016867685.1:p.Asp262Ala
NM_000238.4:c.962A>C MANE Select	NP_000229.1:p.Asp321Ala