Canonical Allele Identifier: CA040976
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 413334
dbSNP Id: rs745496986

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=