Canonical Allele Identifier: CA16612341
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 411188
ClinVar RCV Id: RCV000464132
dbSNP Id: rs1060503187
MyVariant Identifiers: chr8:g.61735197G>C (hg19) chr8:g.60822638G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60822638G>C , CM000670.2:g.60822638G>C GRCh38
NC_000008.10:g.61735197G>C , CM000670.1:g.61735197G>C GRCh37
NC_000008.9:g.61897751G>C NCBI36
NG_007009.1:g.148859G>C , LRG_176:g.148859G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000695853.1:c.3093G>C ENSP00000512218.1:p.Trp1031Cys
ENST00000423902.7:c.3093G>C MANE Select ENSP00000392028.1:p.Trp1031Cys
ENST00000423902.6:c.3093G>C ENSP00000392028.1:p.Trp1031Cys
ENST00000524602.5:c.1717-39591G>C ENSP00000437061.1:n.1717-39591G>C
ENST00000525508.1:c.3093G>C ENSP00000436027.1:p.Trp1031Cys
NM_001316690.1:c.1717-39591G>C NP_001303619.1:n.1717-39591G>C
NM_017780.3:c.3093G>C NP_060250.2:p.Trp1031Cys
XM_011517553.1:c.3093G>C XP_011515855.1:p.Trp1031Cys
XM_011517554.1:c.3093G>C XP_011515856.1:p.Trp1031Cys
XM_011517555.1:c.3093G>C XP_011515857.1:p.Trp1031Cys
XM_011517556.1:c.3093G>C XP_011515858.1:p.Trp1031Cys
XM_011517557.1:c.1080G>C XP_011515859.1:p.Trp360Cys
XM_011517558.1:c.630G>C XP_011515860.1:p.Trp210Cys
XM_011517560.1:c.3093G>C XP_011515862.1:p.Trp1031Cys
XM_011517553.2:c.3093G>C XP_011515855.1:p.Trp1031Cys
XM_011517554.3:c.3093G>C XP_011515856.1:p.Trp1031Cys
XM_011517555.2:c.3093G>C XP_011515857.1:p.Trp1031Cys
XM_011517560.2:c.3093G>C XP_011515862.1:p.Trp1031Cys
XM_017013612.1:c.3093G>C XP_016869101.1:p.Trp1031Cys
XM_017013613.1:c.3093G>C XP_016869102.1:p.Trp1031Cys
NM_017780.4:c.3093G>C MANE Select NP_060250.2:p.Trp1031Cys
Search 100 bp 5'
Search 100 bp 3'