Canonical Allele Identifier: CA040976

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 413334
• ClinVar RCV Id: RCV000474164 ; RCV001162646
• dbSNP Id: rs745496986
• ExAC: 7:150654577 T / C
• gnomAD v2: 7-150654577-T-C
• gnomAD v3: 7-150957489-T-C
• gnomAD v4: 7-150957489-T-C
• MyVariant Identifiers: chr7:g.150654577T>C (hg19) ; chr7:g.150957489T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957489T>C , CM000669.2:g.150957489T>C	GRCh38
NC_000007.13:g.150654577T>C , CM000669.1:g.150654577T>C	GRCh37
NC_000007.12:g.150285510T>C	NCBI36
NG_008916.1:g.25438A>G , LRG_288:g.25438A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1763A>G
ENST00000262186.10:c.930A>G MANE Select	ENSP00000262186.5:p.Pro310=
ENST00000262186.9:c.930A>G	ENSP00000262186.5:p.Pro310=
ENST00000430723.4:c.582A>G	ENSP00000387657.4:p.Pro194=
ENST00000532957.5:n.1153A>G
NM_000238.3:c.930A>G , LRG_288t1:c.930A>G	NP_000229.1:p.Pro310=
NM_172056.2:c.930A>G , LRG_288t2:c.930A>G	NP_742053.1:p.Pro310=
XM_011516185.1:c.630A>G	XP_011514487.1:p.Pro210=
XM_011516186.1:c.930A>G	XP_011514488.1:p.Pro310=
XM_011516185.2:c.630A>G	XP_011514487.1:p.Pro210=
XM_011516186.3:c.930A>G	XP_011514488.1:p.Pro310=
XM_017012195.1:c.780A>G	XP_016867684.1:p.Pro260=
XM_017012196.1:c.753A>G	XP_016867685.1:p.Pro251=
NM_000238.4:c.930A>G MANE Select	NP_000229.1:p.Pro310=