Canonical Allele Identifier: CA578701824

Gene: KCNH2

Linked Data

• gnomAD v2: 7-150645533-CTTG-C
• gnomAD v3: 7-150948445-CTTG-C
• gnomAD v4: 7-150948445-CTTG-C
• MyVariant Identifiers: chr7:g.150645535_150645537del (hg19) ; chr7:g.150948447_150948449del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948447_150948449del , CM000669.2:g.150948447_150948449del	GRCh38
NC_000007.13:g.150645535_150645537del , CM000669.1:g.150645535_150645537del	GRCh37
NC_000007.12:g.150276468_150276470del	NCBI36
NG_008916.1:g.34479_34481del , LRG_288:g.34479_34481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3521_3523del
ENST00000262186.10:c.2688_2690del MANE Select	ENSP00000262186.5:p.Asp896_Lys897delinsGlu
ENST00000330883.9:c.1668_1670del	ENSP00000328531.4:p.Asp556_Lys557delinsGlu
ENST00000262186.9:c.2688_2690del	ENSP00000262186.5:p.Asp896_Lys897delinsGlu
ENST00000330883.8:c.1668_1670del	ENSP00000328531.4:p.Asp556_Lys557delinsGlu
NM_000238.3:c.2688_2690del , LRG_288t1:c.2688_2690del	NP_000229.1:p.Asp896_Lys897delinsGlu
NM_172057.2:c.1668_1670del , LRG_288t3:c.1668_1670del	NP_742054.1:p.Asp556_Lys557delinsGlu
XM_011516185.1:c.2388_2390del	XP_011514487.1:p.Asp796_Lys797delinsGlu
XM_011516186.1:c.2688_2690del	XP_011514488.1:p.Asp896_Lys897delinsGlu
XM_011516185.2:c.2388_2390del	XP_011514487.1:p.Asp796_Lys797delinsGlu
XM_011516186.3:c.2688_2690del	XP_011514488.1:p.Asp896_Lys897delinsGlu
XM_017012195.1:c.2538_2540del	XP_016867684.1:p.Asp846_Lys847delinsGlu
XM_017012196.1:c.2511_2513del	XP_016867685.1:p.Asp837_Lys838delinsGlu
NM_000238.4:c.2688_2690del MANE Select	NP_000229.1:p.Asp896_Lys897delinsGlu
NM_172057.3:c.1668_1670del	NP_742054.1:p.Asp556_Lys557delinsGlu