Canonical Allele Identifier: CA369861778

Gene: KCNH2

Linked Data

• dbSNP Id: rs1584864056
• MyVariant Identifiers: chr7:g.150654539T>G (hg19) ; chr7:g.150957451T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957451T>G , CM000669.2:g.150957451T>G	GRCh38
NC_000007.13:g.150654539T>G , CM000669.1:g.150654539T>G	GRCh37
NC_000007.12:g.150285472T>G	NCBI36
NG_008916.1:g.25476A>C , LRG_288:g.25476A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1801A>C
ENST00000262186.10:c.968A>C MANE Select	ENSP00000262186.5:p.Asp323Ala
ENST00000262186.9:c.968A>C	ENSP00000262186.5:p.Asp323Ala
ENST00000430723.4:c.620A>C	ENSP00000387657.4:p.Asp207Ala
ENST00000532957.5:n.1191A>C
NM_000238.3:c.968A>C , LRG_288t1:c.968A>C	NP_000229.1:p.Asp323Ala
NM_172056.2:c.968A>C , LRG_288t2:c.968A>C	NP_742053.1:p.Asp323Ala
XM_011516185.1:c.668A>C	XP_011514487.1:p.Asp223Ala
XM_011516186.1:c.968A>C	XP_011514488.1:p.Asp323Ala
XM_011516185.2:c.668A>C	XP_011514487.1:p.Asp223Ala
XM_011516186.3:c.968A>C	XP_011514488.1:p.Asp323Ala
XM_017012195.1:c.818A>C	XP_016867684.1:p.Asp273Ala
XM_017012196.1:c.791A>C	XP_016867685.1:p.Asp264Ala
NM_000238.4:c.968A>C MANE Select	NP_000229.1:p.Asp323Ala