Canonical Allele Identifier: CA1139660338

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 937320
• ClinVar RCV Id: RCV001206303
• dbSNP Id: rs1801007403

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948483_150948487del , CM000669.2:g.150948483_150948487del	GRCh38
NC_000007.13:g.150645571_150645575del , CM000669.1:g.150645571_150645575del	GRCh37
NC_000007.12:g.150276504_150276508del	NCBI36
NG_008916.1:g.34444_34448del , LRG_288:g.34444_34448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3486_3490del
ENST00000262186.10:c.2653_2657del MANE Select	ENSP00000262186.5:p.Arg885AlafsTer?
ENST00000330883.9:c.1633_1637del	ENSP00000328531.4:p.Arg545AlafsTer?
ENST00000262186.9:c.2653_2657del	ENSP00000262186.5:p.Arg885AlafsTer?
ENST00000330883.8:c.1633_1637del	ENSP00000328531.4:p.Arg545AlafsTer?
NM_000238.3:c.2653_2657del , LRG_288t1:c.2653_2657del	NP_000229.1:p.Arg885AlafsTer?
NM_172057.2:c.1633_1637del , LRG_288t3:c.1633_1637del	NP_742054.1:p.Arg545AlafsTer?
XM_011516185.1:c.2353_2357del	XP_011514487.1:p.Arg785AlafsTer?
XM_011516186.1:c.2653_2657del	XP_011514488.1:p.Arg885AlafsTer?
XM_011516185.2:c.2353_2357del	XP_011514487.1:p.Arg785AlafsTer?
XM_011516186.3:c.2653_2657del	XP_011514488.1:p.Arg885AlafsTer?
XM_017012195.1:c.2503_2507del	XP_016867684.1:p.Arg835AlafsTer?
XM_017012196.1:c.2476_2480del	XP_016867685.1:p.Arg826AlafsTer?
NM_000238.4:c.2653_2657del MANE Select	NP_000229.1:p.Arg885AlafsTer?
NM_172057.3:c.1633_1637del	NP_742054.1:p.Arg545AlafsTer?