Canonical Allele Identifier: CA16612102

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 405356
• ClinVar RCV Id: RCV000458341
• dbSNP Id: rs1064792917
• MyVariant Identifiers: chr7:g.150644441_150644461del (hg19) ; chr7:g.150947353_150947373del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947355_150947375del , CM000669.2:g.150947355_150947375del	GRCh38
NC_000007.13:g.150644443_150644463del , CM000669.1:g.150644443_150644463del	GRCh37
NC_000007.12:g.150275376_150275396del	NCBI36
NG_008916.1:g.35554_35574del , LRG_288:g.35554_35574del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3940_3960del
ENST00000262186.10:c.3107_3127del MANE Select	ENSP00000262186.5:p.Gly1036_Leu1042del
ENST00000330883.9:c.2087_2107del	ENSP00000328531.4:p.Gly696_Leu702del
ENST00000262186.9:c.3107_3127del	ENSP00000262186.5:p.Gly1036_Leu1042del
ENST00000330883.8:c.2087_2107del	ENSP00000328531.4:p.Gly696_Leu702del
NM_000238.3:c.3107_3127del , LRG_288t1:c.3107_3127del	NP_000229.1:p.Gly1036_Leu1042del
NM_172057.2:c.2087_2107del , LRG_288t3:c.2087_2107del	NP_742054.1:p.Gly696_Leu702del
XM_011516185.1:c.2807_2827del	XP_011514487.1:p.Gly936_Leu942del
XM_011516185.2:c.2807_2827del	XP_011514487.1:p.Gly936_Leu942del
XM_017012195.1:c.2957_2977del	XP_016867684.1:p.Gly986_Leu992del
XM_017012196.1:c.2930_2950del	XP_016867685.1:p.Gly977_Leu983del
NM_000238.4:c.3107_3127del MANE Select	NP_000229.1:p.Gly1036_Leu1042del
NM_172057.3:c.2087_2107del	NP_742054.1:p.Gly696_Leu702del