Canonical Allele Identifier: CA2685600524

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948526-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948529del , CM000669.2:g.150948529del	GRCh38
NC_000007.13:g.150645617del , CM000669.1:g.150645617del	GRCh37
NC_000007.12:g.150276550del	NCBI36
NG_008916.1:g.34400del , LRG_288:g.34400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3442del
ENST00000262186.10:c.2609del MANE Select	ENSP00000262186.5:p.Gly870AlafsTer8
ENST00000330883.9:c.1589del	ENSP00000328531.4:p.Gly530AlafsTer8
ENST00000262186.9:c.2609del	ENSP00000262186.5:p.Gly870AlafsTer8
ENST00000330883.8:c.1589del	ENSP00000328531.4:p.Gly530AlafsTer8
NM_000238.3:c.2609del , LRG_288t1:c.2609del	NP_000229.1:p.Gly870AlafsTer8
NM_172057.2:c.1589del , LRG_288t3:c.1589del	NP_742054.1:p.Gly530AlafsTer8
XM_011516185.1:c.2309del	XP_011514487.1:p.Gly770AlafsTer8
XM_011516186.1:c.2609del	XP_011514488.1:p.Gly870AlafsTer8
XM_011516185.2:c.2309del	XP_011514487.1:p.Gly770AlafsTer8
XM_011516186.3:c.2609del	XP_011514488.1:p.Gly870AlafsTer8
XM_017012195.1:c.2459del	XP_016867684.1:p.Gly820AlafsTer8
XM_017012196.1:c.2432del	XP_016867685.1:p.Gly811AlafsTer8
NM_000238.4:c.2609del MANE Select	NP_000229.1:p.Gly870AlafsTer8
NM_172057.3:c.1589del	NP_742054.1:p.Gly530AlafsTer8