Canonical Allele Identifier: CA033654

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1332377
• ClinVar RCV Id: RCV001842204 ; RCV001869541
• dbSNP Id: rs143512106
• ExAC: 7:150645571 G / T
• gnomAD v2: 7-150645571-G-T
• gnomAD v3: 7-150948483-G-T
• gnomAD v4: 7-150948483-G-T
• MyVariant Identifiers: chr7:g.150645571G>T (hg19) ; chr7:g.150948483G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948483G>T , CM000669.2:g.150948483G>T	GRCh38
NC_000007.13:g.150645571G>T , CM000669.1:g.150645571G>T	GRCh37
NC_000007.12:g.150276504G>T	NCBI36
NG_008916.1:g.34444C>A , LRG_288:g.34444C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3486C>A
ENST00000262186.10:c.2653C>A MANE Select	ENSP00000262186.5:p.Arg885Ser
ENST00000330883.9:c.1633C>A	ENSP00000328531.4:p.Arg545Ser
ENST00000262186.9:c.2653C>A	ENSP00000262186.5:p.Arg885Ser
ENST00000330883.8:c.1633C>A	ENSP00000328531.4:p.Arg545Ser
NM_000238.3:c.2653C>A , LRG_288t1:c.2653C>A	NP_000229.1:p.Arg885Ser
NM_172057.2:c.1633C>A , LRG_288t3:c.1633C>A	NP_742054.1:p.Arg545Ser
XM_011516185.1:c.2353C>A	XP_011514487.1:p.Arg785Ser
XM_011516186.1:c.2653C>A	XP_011514488.1:p.Arg885Ser
XM_011516185.2:c.2353C>A	XP_011514487.1:p.Arg785Ser
XM_011516186.3:c.2653C>A	XP_011514488.1:p.Arg885Ser
XM_017012195.1:c.2503C>A	XP_016867684.1:p.Arg835Ser
XM_017012196.1:c.2476C>A	XP_016867685.1:p.Arg826Ser
NM_000238.4:c.2653C>A MANE Select	NP_000229.1:p.Arg885Ser
NM_172057.3:c.1633C>A	NP_742054.1:p.Arg545Ser