Canonical Allele Identifier: CA035667

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 859417
• ClinVar RCV Id: RCV001065522 ; RCV003363094
• dbSNP Id: rs747237810
• ExAC: 7:150644697 A / C
• gnomAD v2: 7-150644697-A-C
• gnomAD v4: 7-150947609-A-C
• MyVariant Identifiers: chr7:g.150644697A>C (hg19) ; chr7:g.150947609A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947609A>C , CM000669.2:g.150947609A>C	GRCh38
NC_000007.13:g.150644697A>C , CM000669.1:g.150644697A>C	GRCh37
NC_000007.12:g.150275630A>C	NCBI36
NG_008916.1:g.35318T>G , LRG_288:g.35318T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3795T>G
ENST00000262186.10:c.2962T>G MANE Select	ENSP00000262186.5:p.Ser988Ala
ENST00000330883.9:c.1942T>G	ENSP00000328531.4:p.Ser648Ala
ENST00000262186.9:c.2962T>G	ENSP00000262186.5:p.Ser988Ala
ENST00000330883.8:c.1942T>G	ENSP00000328531.4:p.Ser648Ala
NM_000238.3:c.2962T>G , LRG_288t1:c.2962T>G	NP_000229.1:p.Ser988Ala
NM_172057.2:c.1942T>G , LRG_288t3:c.1942T>G	NP_742054.1:p.Ser648Ala
XM_011516185.1:c.2662T>G	XP_011514487.1:p.Ser888Ala
XM_011516186.1:c.*42T>G	XP_011514488.1:n.*42T>G
XM_011516185.2:c.2662T>G	XP_011514487.1:p.Ser888Ala
XM_011516186.3:c.*42T>G	XP_011514488.1:n.*42T>G
XM_017012195.1:c.2812T>G	XP_016867684.1:p.Ser938Ala
XM_017012196.1:c.2785T>G	XP_016867685.1:p.Ser929Ala
NM_000238.4:c.2962T>G MANE Select	NP_000229.1:p.Ser988Ala
NM_172057.3:c.1942T>G	NP_742054.1:p.Ser648Ala