Canonical Allele Identifier: CA369857872

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2123781
• ClinVar RCV Id: RCV003055250
• MyVariant Identifiers: chr7:g.150648577T>G (hg19) ; chr7:g.150951489T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951489T>G , CM000669.2:g.150951489T>G	GRCh38
NC_000007.13:g.150648577T>G , CM000669.1:g.150648577T>G	GRCh37
NC_000007.12:g.150279510T>G	NCBI36
NG_008916.1:g.31438A>C , LRG_288:g.31438A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1202A>C
ENST00000683359.1:n.28A>C
ENST00000684241.1:n.2737A>C
ENST00000262186.10:c.1904A>C MANE Select	ENSP00000262186.5:p.Asn635Thr
ENST00000330883.9:c.884A>C	ENSP00000328531.4:p.Asn295Thr
ENST00000262186.9:c.1904A>C	ENSP00000262186.5:p.Asn635Thr
ENST00000330883.8:c.884A>C	ENSP00000328531.4:p.Asn295Thr
ENST00000430723.4:c.1556A>C	ENSP00000387657.4:p.Asn519Thr
ENST00000461280.1:n.1191A>C
ENST00000473610.5:n.1209A>C
ENST00000532957.5:n.2127A>C
NM_000238.3:c.1904A>C , LRG_288t1:c.1904A>C	NP_000229.1:p.Asn635Thr
NM_001204798.1:c.884A>C	NP_001191727.1:p.Asn295Thr
NM_172056.2:c.1904A>C , LRG_288t2:c.1904A>C	NP_742053.1:p.Asn635Thr
NM_172057.2:c.884A>C , LRG_288t3:c.884A>C	NP_742054.1:p.Asn295Thr
XM_011516185.1:c.1604A>C	XP_011514487.1:p.Asn535Thr
XM_011516186.1:c.1904A>C	XP_011514488.1:p.Asn635Thr
XM_011516185.2:c.1604A>C	XP_011514487.1:p.Asn535Thr
XM_011516186.3:c.1904A>C	XP_011514488.1:p.Asn635Thr
XM_017012195.1:c.1754A>C	XP_016867684.1:p.Asn585Thr
XM_017012196.1:c.1727A>C	XP_016867685.1:p.Asn576Thr
NM_000238.4:c.1904A>C MANE Select	NP_000229.1:p.Asn635Thr
NM_001204798.2:c.884A>C	NP_001191727.1:p.Asn295Thr
NM_172057.3:c.884A>C	NP_742054.1:p.Asn295Thr