Canonical Allele Identifier: CA369853561

Gene: KCNH2

Linked Data

• dbSNP Id: rs1800975951
• gnomAD v3: 7-150947871-C-G
• gnomAD v4: 7-150947871-C-G
• MyVariant Identifiers: chr7:g.150644959C>G (hg19) ; chr7:g.150947871C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947871C>G , CM000669.2:g.150947871C>G	GRCh38
NC_000007.13:g.150644959C>G , CM000669.1:g.150644959C>G	GRCh37
NC_000007.12:g.150275892C>G	NCBI36
NG_008916.1:g.35056G>C , LRG_288:g.35056G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3533G>C
ENST00000262186.10:c.2700G>C MANE Select	ENSP00000262186.5:p.Glu900Asp
ENST00000330883.9:c.1680G>C	ENSP00000328531.4:p.Glu560Asp
ENST00000262186.9:c.2700G>C	ENSP00000262186.5:p.Glu900Asp
ENST00000330883.8:c.1680G>C	ENSP00000328531.4:p.Glu560Asp
NM_000238.3:c.2700G>C , LRG_288t1:c.2700G>C	NP_000229.1:p.Glu900Asp
NM_172057.2:c.1680G>C , LRG_288t3:c.1680G>C	NP_742054.1:p.Glu560Asp
XM_011516185.1:c.2400G>C	XP_011514487.1:p.Glu800Asp
XM_011516186.1:c.2693-180G>C	XP_011514488.1:n.2693-180G>C
XM_011516185.2:c.2400G>C	XP_011514487.1:p.Glu800Asp
XM_011516186.3:c.2693-180G>C	XP_011514488.1:n.2693-180G>C
XM_017012195.1:c.2550G>C	XP_016867684.1:p.Glu850Asp
XM_017012196.1:c.2523G>C	XP_016867685.1:p.Glu841Asp
NM_000238.4:c.2700G>C MANE Select	NP_000229.1:p.Glu900Asp
NM_172057.3:c.1680G>C	NP_742054.1:p.Glu560Asp