Canonical Allele Identifier: CA904527774
Gene: KCNH8 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.19334299G>C
GRCh37 chr3:g.19375791G>C
gnomAD v3:
3:19334299 G / C
gnomAD v4:
chr3-19334299-G-C
Joint Max Group AF 0.00000801 (AFR)
Genomes Max Group AF 0.00000801 (AFR)
dbSNP:
2053506
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.19334299G>C , CM000665.2:g.19334299G>C GRCh38
NC_000003.11:g.19375791G>C , CM000665.1:g.19375791G>C GRCh37
NC_000003.10:g.19350795G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000328405.7:c.443-8288G>C MANE Select ENSP00000328813.2:n.443-8288G>C
ENST00000328405.6:c.443-8288G>C ENSP00000328813.2:n.443-8288G>C
ENST00000452398.5:c.443-8288G>C ENSP00000412141.1:n.443-8288G>C
NM_144633.2:c.443-8288G>C NP_653234.2:n.443-8288G>C
XM_011533343.1:c.443-8288G>C XP_011531645.1:n.443-8288G>C
XM_011533344.1:c.386-8288G>C XP_011531646.1:n.386-8288G>C
XM_011533345.1:c.443-8288G>C XP_011531647.1:n.443-8288G>C
XM_011533346.1:c.-175-8288G>C XP_011531648.1:n.-175-8288G>C
XM_017005698.2:c.443-8288G>C XP_016861187.1:n.443-8288G>C
XM_017005699.1:c.209-8288G>C XP_016861188.1:n.209-8288G>C
XM_017005700.2:c.443-8288G>C XP_016861189.1:n.443-8288G>C
XM_017005701.2:c.-175-8288G>C XP_016861190.1:n.-175-8288G>C
XM_017005702.1:c.-2024-8288G>C XP_016861191.1:n.-2024-8288G>C
XM_024453341.1:c.-1866-8288G>C XP_024309109.1:n.-1866-8288G>C
XM_024453342.1:c.-1227-8288G>C XP_024309110.1:n.-1227-8288G>C
XR_001740010.2:n.621-8288G>C
NM_144633.3:c.443-8288G>C MANE Select NP_653234.2:n.443-8288G>C
Search 100 bp 5'
Search 100 bp 3'