Canonical Allele Identifier: CA369860716

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150955413-T-G
• MyVariant Identifiers: chr7:g.150652501T>G (hg19) ; chr7:g.150955413T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955413T>G , CM000669.2:g.150955413T>G	GRCh38
NC_000007.13:g.150652501T>G , CM000669.1:g.150652501T>G	GRCh37
NC_000007.12:g.150283434T>G	NCBI36
NG_008916.1:g.27514A>C , LRG_288:g.27514A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.409A>C
ENST00000684241.1:n.1961+1878A>C
ENST00000262186.10:c.1128+1878A>C MANE Select	ENSP00000262186.5:n.1128+1878A>C
ENST00000330883.9:c.91A>C	ENSP00000328531.4:p.Ser31Arg
ENST00000262186.9:c.1128+1878A>C	ENSP00000262186.5:n.1128+1878A>C
ENST00000330883.8:c.91A>C	ENSP00000328531.4:p.Ser31Arg
ENST00000430723.4:c.780+1878A>C	ENSP00000387657.4:n.780+1878A>C
ENST00000461280.1:n.398A>C
ENST00000473610.5:n.416A>C
ENST00000532957.5:n.1351+1878A>C
NM_000238.3:c.1128+1878A>C , LRG_288t1:c.1128+1878A>C	NP_000229.1:n.1128+1878A>C
NM_001204798.1:c.91A>C	NP_001191727.1:p.Ser31Arg
NM_172056.2:c.1128+1878A>C , LRG_288t2:c.1128+1878A>C	NP_742053.1:n.1128+1878A>C
NM_172057.2:c.91A>C , LRG_288t3:c.91A>C	NP_742054.1:p.Ser31Arg
XM_011516185.1:c.828+1878A>C	XP_011514487.1:n.828+1878A>C
XM_011516186.1:c.1128+1878A>C	XP_011514488.1:n.1128+1878A>C
XM_011516185.2:c.828+1878A>C	XP_011514487.1:n.828+1878A>C
XM_011516186.3:c.1128+1878A>C	XP_011514488.1:n.1128+1878A>C
XM_017012195.1:c.978+1878A>C	XP_016867684.1:n.978+1878A>C
XM_017012196.1:c.951+1878A>C	XP_016867685.1:n.951+1878A>C
NM_000238.4:c.1128+1878A>C MANE Select	NP_000229.1:n.1128+1878A>C
NM_001204798.2:c.91A>C	NP_001191727.1:p.Ser31Arg
NM_172057.3:c.91A>C	NP_742054.1:p.Ser31Arg