Canonical Allele Identifier: CA458648329
Gene: KCNH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.150674972C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977884C>A , CM000669.2:g.150977884C>A GRCh38
NC_000007.13:g.150674972C>A , CM000669.1:g.150674972C>A GRCh37
NC_000007.12:g.150305905C>A NCBI36
NG_008916.1:g.5043G>T , LRG_288:g.5043G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.30G>T MANE Select ENSP00000262186.5:p.Pro10=
ENST00000262186.9:c.30G>T ENSP00000262186.5:p.Pro10=
ENST00000430723.4:c.-148G>T ENSP00000387657.4:n.-148G>T
ENST00000532957.5:n.253G>T
NM_000238.3:c.30G>T , LRG_288t1:c.30G>T NP_000229.1:p.Pro10=
NM_172056.2:c.30G>T , LRG_288t2:c.30G>T NP_742053.1:p.Pro10=
XM_011516186.1:c.30G>T XP_011514488.1:p.Pro10=
XM_011516186.3:c.30G>T XP_011514488.1:p.Pro10=
NM_000238.4:c.30G>T MANE Select NP_000229.1:p.Pro10=