Canonical Allele Identifier: CA223285
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2022
ClinVar RCV Id: RCV000002100 RCV000081828 RCV000763598
dbSNP Id: rs121434338
MyVariant Identifiers: chr8:g.61735186A>G (hg19) chr8:g.60822627A>G (hg38)
PubMed: PMID:15300250 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60822627A>G , CM000670.2:g.60822627A>G GRCh38
NC_000008.10:g.61735186A>G , CM000670.1:g.61735186A>G GRCh37
NC_000008.9:g.61897740A>G NCBI36
NG_007009.1:g.148848A>G , LRG_176:g.148848A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000695853.1:c.3082A>G ENSP00000512218.1:p.Ile1028Val
ENST00000423902.7:c.3082A>G MANE Select ENSP00000392028.1:p.Ile1028Val
ENST00000423902.6:c.3082A>G ENSP00000392028.1:p.Ile1028Val
ENST00000524602.5:c.1717-39602A>G ENSP00000437061.1:n.1717-39602A>G
ENST00000525508.1:c.3082A>G ENSP00000436027.1:p.Ile1028Val
NM_001316690.1:c.1717-39602A>G NP_001303619.1:n.1717-39602A>G
NM_017780.3:c.3082A>G NP_060250.2:p.Ile1028Val
XM_011517553.1:c.3082A>G XP_011515855.1:p.Ile1028Val
XM_011517554.1:c.3082A>G XP_011515856.1:p.Ile1028Val
XM_011517555.1:c.3082A>G XP_011515857.1:p.Ile1028Val
XM_011517556.1:c.3082A>G XP_011515858.1:p.Ile1028Val
XM_011517557.1:c.1069A>G XP_011515859.1:p.Ile357Val
XM_011517558.1:c.619A>G XP_011515860.1:p.Ile207Val
XM_011517560.1:c.3082A>G XP_011515862.1:p.Ile1028Val
XM_011517553.2:c.3082A>G XP_011515855.1:p.Ile1028Val
XM_011517554.3:c.3082A>G XP_011515856.1:p.Ile1028Val
XM_011517555.2:c.3082A>G XP_011515857.1:p.Ile1028Val
XM_011517560.2:c.3082A>G XP_011515862.1:p.Ile1028Val
XM_017013612.1:c.3082A>G XP_016869101.1:p.Ile1028Val
XM_017013613.1:c.3082A>G XP_016869102.1:p.Ile1028Val
NM_017780.4:c.3082A>G MANE Select NP_060250.2:p.Ile1028Val
Search 100 bp 5'
Search 100 bp 3'