Canonical Allele Identifier: CA1108704806

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 919461
• ClinVar RCV Id: RCV001842698
• dbSNP Id: rs1800976948
• gnomAD v3: 7-150947889-CAG-C
• gnomAD v4: 7-150947889-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947893_150947894del , CM000669.2:g.150947893_150947894del	GRCh38
NC_000007.13:g.150644981_150644982del , CM000669.1:g.150644981_150644982del	GRCh37
NC_000007.12:g.150275914_150275915del	NCBI36
NG_008916.1:g.35036_35037del , LRG_288:g.35036_35037del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3526-13_3526-12del
ENST00000262186.10:c.2693-13_2693-12del MANE Select	ENSP00000262186.5:n.2693-13_2693-12del
ENST00000330883.9:c.1673-13_1673-12del	ENSP00000328531.4:n.1673-13_1673-12del
ENST00000262186.9:c.2693-13_2693-12del	ENSP00000262186.5:n.2693-13_2693-12del
ENST00000330883.8:c.1673-13_1673-12del	ENSP00000328531.4:n.1673-13_1673-12del
NM_000238.3:c.2693-13_2693-12del , LRG_288t1:c.2693-13_2693-12del	NP_000229.1:n.2693-13_2693-12del
NM_172057.2:c.1673-13_1673-12del , LRG_288t3:c.1673-13_1673-12del	NP_742054.1:n.1673-13_1673-12del
XM_011516185.1:c.2393-13_2393-12del	XP_011514487.1:n.2393-13_2393-12del
XM_011516186.1:c.2693-200_2693-199del	XP_011514488.1:n.2693-200_2693-199del
XM_011516185.2:c.2393-13_2393-12del	XP_011514487.1:n.2393-13_2393-12del
XM_011516186.3:c.2693-200_2693-199del	XP_011514488.1:n.2693-200_2693-199del
XM_017012195.1:c.2543-13_2543-12del	XP_016867684.1:n.2543-13_2543-12del
XM_017012196.1:c.2516-13_2516-12del	XP_016867685.1:n.2516-13_2516-12del
NM_000238.4:c.2693-13_2693-12del MANE Select	NP_000229.1:n.2693-13_2693-12del
NM_172057.3:c.1673-13_1673-12del	NP_742054.1:n.1673-13_1673-12del