Canonical Allele Identifier: CA369855280

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2706007
• ClinVar RCV Id: RCV003534032
• MyVariant Identifiers: chr7:g.150646093G>C (hg19) ; chr7:g.150949005G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949005G>C , CM000669.2:g.150949005G>C	GRCh38
NC_000007.13:g.150646093G>C , CM000669.1:g.150646093G>C	GRCh37
NC_000007.12:g.150277026G>C	NCBI36
NG_008916.1:g.33922C>G , LRG_288:g.33922C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3276C>G
ENST00000262186.10:c.2443C>G MANE Select	ENSP00000262186.5:p.Pro815Ala
ENST00000330883.9:c.1423C>G	ENSP00000328531.4:p.Pro475Ala
ENST00000262186.9:c.2443C>G	ENSP00000262186.5:p.Pro815Ala
ENST00000330883.8:c.1423C>G	ENSP00000328531.4:p.Pro475Ala
NM_000238.3:c.2443C>G , LRG_288t1:c.2443C>G	NP_000229.1:p.Pro815Ala
NM_172057.2:c.1423C>G , LRG_288t3:c.1423C>G	NP_742054.1:p.Pro475Ala
XM_011516185.1:c.2143C>G	XP_011514487.1:p.Pro715Ala
XM_011516186.1:c.2443C>G	XP_011514488.1:p.Pro815Ala
XM_011516185.2:c.2143C>G	XP_011514487.1:p.Pro715Ala
XM_011516186.3:c.2443C>G	XP_011514488.1:p.Pro815Ala
XM_017012195.1:c.2293C>G	XP_016867684.1:p.Pro765Ala
XM_017012196.1:c.2266C>G	XP_016867685.1:p.Pro756Ala
NM_000238.4:c.2443C>G MANE Select	NP_000229.1:p.Pro815Ala
NM_172057.3:c.1423C>G	NP_742054.1:p.Pro475Ala