Canonical Allele Identifier: CA458872484
Gene: KCNH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.150672004A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974916A>C , CM000669.2:g.150974916A>C GRCh38
NC_000007.13:g.150672004A>C , CM000669.1:g.150672004A>C GRCh37
NC_000007.12:g.150302937A>C NCBI36
NG_008916.1:g.8011T>G , LRG_288:g.8011T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.102T>G MANE Select ENSP00000262186.5:p.Ala34=
ENST00000262186.9:c.102T>G ENSP00000262186.5:p.Ala34=
ENST00000430723.4:c.-76T>G ENSP00000387657.4:n.-76T>G
ENST00000532957.5:n.325T>G
NM_000238.3:c.102T>G , LRG_288t1:c.102T>G NP_000229.1:p.Ala34=
NM_172056.2:c.102T>G , LRG_288t2:c.102T>G NP_742053.1:p.Ala34=
XM_011516186.1:c.102T>G XP_011514488.1:p.Ala34=
XM_011516186.3:c.102T>G XP_011514488.1:p.Ala34=
XM_017012196.1:c.-76T>G XP_016867685.1:n.-76T>G
NM_000238.4:c.102T>G MANE Select NP_000229.1:p.Ala34=
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Search 100 bp 3'