Canonical Allele Identifier: CA369852565

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 427971
• ClinVar RCV Id: RCV000498076
• dbSNP Id: rs1346047270
• MyVariant Identifiers: chr7:g.150644444G>C (hg19) ; chr7:g.150947356G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947356G>C , CM000669.2:g.150947356G>C	GRCh38
NC_000007.13:g.150644444G>C , CM000669.1:g.150644444G>C	GRCh37
NC_000007.12:g.150275377G>C	NCBI36
NG_008916.1:g.35571C>G , LRG_288:g.35571C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3957C>G
ENST00000262186.10:c.3124C>G MANE Select	ENSP00000262186.5:p.Leu1042Val
ENST00000330883.9:c.2104C>G	ENSP00000328531.4:p.Leu702Val
ENST00000262186.9:c.3124C>G	ENSP00000262186.5:p.Leu1042Val
ENST00000330883.8:c.2104C>G	ENSP00000328531.4:p.Leu702Val
NM_000238.3:c.3124C>G , LRG_288t1:c.3124C>G	NP_000229.1:p.Leu1042Val
NM_172057.2:c.2104C>G , LRG_288t3:c.2104C>G	NP_742054.1:p.Leu702Val
XM_011516185.1:c.2824C>G	XP_011514487.1:p.Leu942Val
XM_011516185.2:c.2824C>G	XP_011514487.1:p.Leu942Val
XM_017012195.1:c.2974C>G	XP_016867684.1:p.Leu992Val
XM_017012196.1:c.2947C>G	XP_016867685.1:p.Leu983Val
NM_000238.4:c.3124C>G MANE Select	NP_000229.1:p.Leu1042Val
NM_172057.3:c.2104C>G	NP_742054.1:p.Leu702Val