Canonical Allele Identifier: CA16618669
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 419570
ClinVar RCV Id: RCV000480102
dbSNP Id: rs1064793962
MyVariant Identifiers: chr8:g.61750688T>G (hg19) chr8:g.60838129T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60838129T>G , CM000670.2:g.60838129T>G GRCh38
NC_000008.10:g.61750688T>G , CM000670.1:g.61750688T>G GRCh37
NC_000008.9:g.61913242T>G NCBI36
NG_007009.1:g.164350T>G , LRG_176:g.164350T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000695853.1:c.4407T>G ENSP00000512218.1:p.Tyr1469Ter
ENST00000423902.7:c.4407T>G MANE Select ENSP00000392028.1:p.Tyr1469Ter
ENST00000423902.6:c.4407T>G ENSP00000392028.1:p.Tyr1469Ter
ENST00000524602.5:c.1717-24100T>G ENSP00000437061.1:n.1717-24100T>G
NM_001316690.1:c.1717-24100T>G NP_001303619.1:n.1717-24100T>G
NM_017780.3:c.4407T>G NP_060250.2:p.Tyr1469Ter
XM_011517553.1:c.4407T>G XP_011515855.1:p.Tyr1469Ter
XM_011517554.1:c.4407T>G XP_011515856.1:p.Tyr1469Ter
XM_011517555.1:c.4407T>G XP_011515857.1:p.Tyr1469Ter
XM_011517556.1:c.4407T>G XP_011515858.1:p.Tyr1469Ter
XM_011517557.1:c.2394T>G XP_011515859.1:p.Tyr798Ter
XM_011517558.1:c.1944T>G XP_011515860.1:p.Tyr648Ter
XM_011517559.1:c.1152T>G XP_011515861.1:p.Tyr384Ter
XM_011517560.1:c.4407T>G XP_011515862.1:p.Tyr1469Ter
XM_011517553.2:c.4407T>G XP_011515855.1:p.Tyr1469Ter
XM_011517554.3:c.4407T>G XP_011515856.1:p.Tyr1469Ter
XM_011517555.2:c.4407T>G XP_011515857.1:p.Tyr1469Ter
XM_011517560.2:c.4407T>G XP_011515862.1:p.Tyr1469Ter
XM_017013612.1:c.4407T>G XP_016869101.1:p.Tyr1469Ter
XM_017013613.1:c.4407T>G XP_016869102.1:p.Tyr1469Ter
NM_017780.4:c.4407T>G MANE Select NP_060250.2:p.Tyr1469Ter
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