Canonical Allele Identifier: CA007376

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67438
• ClinVar RCV Id: RCV000058164 ; RCV000454684 ; RCV000468983 ; RCV000619828 ; RCV001198823 ; RCV001841725
• dbSNP Id: rs199473009
• ExAC: 7:150644888 C / G
• gnomAD v2: 7-150644888-C-G
• gnomAD v3: 7-150947800-C-G
• gnomAD v4: 7-150947800-C-G
• MyVariant Identifiers: chr7:g.150644888C>G (hg19) ; chr7:g.150947800C>G (hg38)
• PubMed: PMID:19716085 ; PMID:22581653 ; PMID:26704558 ; PMID:26746457

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947800C>G , CM000669.2:g.150947800C>G	GRCh38
NC_000007.13:g.150644888C>G , CM000669.1:g.150644888C>G	GRCh37
NC_000007.12:g.150275821C>G	NCBI36
NG_008916.1:g.35127G>C , LRG_288:g.35127G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3604G>C
ENST00000262186.10:c.2771G>C MANE Select	ENSP00000262186.5:p.Gly924Ala
ENST00000330883.9:c.1751G>C	ENSP00000328531.4:p.Gly584Ala
ENST00000262186.9:c.2771G>C	ENSP00000262186.5:p.Gly924Ala
ENST00000330883.8:c.1751G>C	ENSP00000328531.4:p.Gly584Ala
NM_000238.3:c.2771G>C , LRG_288t1:c.2771G>C	NP_000229.1:p.Gly924Ala
NM_172057.2:c.1751G>C , LRG_288t3:c.1751G>C	NP_742054.1:p.Gly584Ala
XM_011516185.1:c.2471G>C	XP_011514487.1:p.Gly824Ala
XM_011516186.1:c.2693-109G>C	XP_011514488.1:n.2693-109G>C
XM_011516185.2:c.2471G>C	XP_011514487.1:p.Gly824Ala
XM_011516186.3:c.2693-109G>C	XP_011514488.1:n.2693-109G>C
XM_017012195.1:c.2621G>C	XP_016867684.1:p.Gly874Ala
XM_017012196.1:c.2594G>C	XP_016867685.1:p.Gly865Ala
NM_000238.4:c.2771G>C MANE Select	NP_000229.1:p.Gly924Ala
NM_172057.3:c.1751G>C	NP_742054.1:p.Gly584Ala