Canonical Allele Identifier: CA038742

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1730447
• ClinVar RCV Id: RCV002326623
• dbSNP Id: rs753274350
• ExAC: 7:150642589 A / G
• gnomAD v2: 7-150642589-A-G
• gnomAD v4: 7-150945501-A-G
• MyVariant Identifiers: chr7:g.150642589A>G (hg19) ; chr7:g.150945501A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945501A>G , CM000669.2:g.150945501A>G	GRCh38
NC_000007.13:g.150642589A>G , CM000669.1:g.150642589A>G	GRCh37
NC_000007.12:g.150273522A>G	NCBI36
NG_008916.1:g.37426T>C , LRG_288:g.37426T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4177T>C
ENST00000262186.10:c.3344T>C MANE Select	ENSP00000262186.5:p.Met1115Thr
ENST00000330883.9:c.2324T>C	ENSP00000328531.4:p.Met775Thr
ENST00000262186.9:c.3344T>C	ENSP00000262186.5:p.Met1115Thr
ENST00000330883.8:c.2324T>C	ENSP00000328531.4:p.Met775Thr
NM_000238.3:c.3344T>C , LRG_288t1:c.3344T>C	NP_000229.1:p.Met1115Thr
NM_172057.2:c.2324T>C , LRG_288t3:c.2324T>C	NP_742054.1:p.Met775Thr
XM_011516185.1:c.3044T>C	XP_011514487.1:p.Met1015Thr
XM_011516185.2:c.3044T>C	XP_011514487.1:p.Met1015Thr
XM_017012195.1:c.3194T>C	XP_016867684.1:p.Met1065Thr
XM_017012196.1:c.3167T>C	XP_016867685.1:p.Met1056Thr
NM_000238.4:c.3344T>C MANE Select	NP_000229.1:p.Met1115Thr
NM_172057.3:c.2324T>C	NP_742054.1:p.Met775Thr