Canonical Allele Identifier: CA033403

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 641744
• ClinVar RCV Id: RCV000795053 ; RCV002424813 ; RCV001841976
• dbSNP Id: rs752020408
• ExAC: 7:150645624 A / G
• gnomAD v2: 7-150645624-A-G
• gnomAD v3: 7-150948536-A-G
• gnomAD v4: 7-150948536-A-G
• MyVariant Identifiers: chr7:g.150645624A>G (hg19) ; chr7:g.150948536A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948536A>G , CM000669.2:g.150948536A>G	GRCh38
NC_000007.13:g.150645624A>G , CM000669.1:g.150645624A>G	GRCh37
NC_000007.12:g.150276557A>G	NCBI36
NG_008916.1:g.34391T>C , LRG_288:g.34391T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3433T>C
ENST00000262186.10:c.2600T>C MANE Select	ENSP00000262186.5:p.Met867Thr
ENST00000330883.9:c.1580T>C	ENSP00000328531.4:p.Met527Thr
ENST00000262186.9:c.2600T>C	ENSP00000262186.5:p.Met867Thr
ENST00000330883.8:c.1580T>C	ENSP00000328531.4:p.Met527Thr
NM_000238.3:c.2600T>C , LRG_288t1:c.2600T>C	NP_000229.1:p.Met867Thr
NM_172057.2:c.1580T>C , LRG_288t3:c.1580T>C	NP_742054.1:p.Met527Thr
XM_011516185.1:c.2300T>C	XP_011514487.1:p.Met767Thr
XM_011516186.1:c.2600T>C	XP_011514488.1:p.Met867Thr
XM_011516185.2:c.2300T>C	XP_011514487.1:p.Met767Thr
XM_011516186.3:c.2600T>C	XP_011514488.1:p.Met867Thr
XM_017012195.1:c.2450T>C	XP_016867684.1:p.Met817Thr
XM_017012196.1:c.2423T>C	XP_016867685.1:p.Met808Thr
NM_000238.4:c.2600T>C MANE Select	NP_000229.1:p.Met867Thr
NM_172057.3:c.1580T>C	NP_742054.1:p.Met527Thr