Canonical Allele Identifier: CA16605072

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 379293
• ClinVar RCV Id: RCV000423718 ; RCV000804954
• dbSNP Id: rs1057520558
• MyVariant Identifiers: chr7:g.150644541G>C (hg19) ; chr7:g.150947453G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947453G>C , CM000669.2:g.150947453G>C	GRCh38
NC_000007.13:g.150644541G>C , CM000669.1:g.150644541G>C	GRCh37
NC_000007.12:g.150275474G>C	NCBI36
NG_008916.1:g.35474C>G , LRG_288:g.35474C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3860C>G
ENST00000262186.10:c.3027C>G MANE Select	ENSP00000262186.5:p.Tyr1009Ter
ENST00000330883.9:c.2007C>G	ENSP00000328531.4:p.Tyr669Ter
ENST00000262186.9:c.3027C>G	ENSP00000262186.5:p.Tyr1009Ter
ENST00000330883.8:c.2007C>G	ENSP00000328531.4:p.Tyr669Ter
NM_000238.3:c.3027C>G , LRG_288t1:c.3027C>G	NP_000229.1:p.Tyr1009Ter
NM_172057.2:c.2007C>G , LRG_288t3:c.2007C>G	NP_742054.1:p.Tyr669Ter
XM_011516185.1:c.2727C>G	XP_011514487.1:p.Tyr909Ter
XM_011516186.1:c.*107C>G	XP_011514488.1:n.*107C>G
XM_011516185.2:c.2727C>G	XP_011514487.1:p.Tyr909Ter
XM_011516186.3:c.*107C>G	XP_011514488.1:n.*107C>G
XM_017012195.1:c.2877C>G	XP_016867684.1:p.Tyr959Ter
XM_017012196.1:c.2850C>G	XP_016867685.1:p.Tyr950Ter
NM_000238.4:c.3027C>G MANE Select	NP_000229.1:p.Tyr1009Ter
NM_172057.3:c.2007C>G	NP_742054.1:p.Tyr669Ter