Canonical Allele Identifier: CA034162

Gene: KCNH2

Linked Data

• dbSNP Id: rs757676104
• ExAC: 7:150645537 T / C
• gnomAD v2: 7-150645537-T-C
• gnomAD v3: 7-150948449-T-C
• gnomAD v4: 7-150948449-T-C
• MyVariant Identifiers: chr7:g.150645537T>C (hg19) ; chr7:g.150948449T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948449T>C , CM000669.2:g.150948449T>C	GRCh38
NC_000007.13:g.150645537T>C , CM000669.1:g.150645537T>C	GRCh37
NC_000007.12:g.150276470T>C	NCBI36
NG_008916.1:g.34478A>G , LRG_288:g.34478A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3520A>G
ENST00000262186.10:c.2687A>G MANE Select	ENSP00000262186.5:p.Asp896Gly
ENST00000330883.9:c.1667A>G	ENSP00000328531.4:p.Asp556Gly
ENST00000262186.9:c.2687A>G	ENSP00000262186.5:p.Asp896Gly
ENST00000330883.8:c.1667A>G	ENSP00000328531.4:p.Asp556Gly
NM_000238.3:c.2687A>G , LRG_288t1:c.2687A>G	NP_000229.1:p.Asp896Gly
NM_172057.2:c.1667A>G , LRG_288t3:c.1667A>G	NP_742054.1:p.Asp556Gly
XM_011516185.1:c.2387A>G	XP_011514487.1:p.Asp796Gly
XM_011516186.1:c.2687A>G	XP_011514488.1:p.Asp896Gly
XM_011516185.2:c.2387A>G	XP_011514487.1:p.Asp796Gly
XM_011516186.3:c.2687A>G	XP_011514488.1:p.Asp896Gly
XM_017012195.1:c.2537A>G	XP_016867684.1:p.Asp846Gly
XM_017012196.1:c.2510A>G	XP_016867685.1:p.Asp837Gly
NM_000238.4:c.2687A>G MANE Select	NP_000229.1:p.Asp896Gly
NM_172057.3:c.1667A>G	NP_742054.1:p.Asp556Gly