Canonical Allele Identifier: CA371308002

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1501485
• ClinVar RCV Id: RCV002017503
• dbSNP Id: rs1369699481
• MyVariant Identifiers: chr8:g.61777760C>G (hg19) ; chr8:g.60865201C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865201C>G , CM000670.2:g.60865201C>G	GRCh38
NC_000008.10:g.61777760C>G , CM000670.1:g.61777760C>G	GRCh37
NC_000008.9:g.61940314C>G	NCBI36
NG_007009.1:g.191422C>G , LRG_176:g.191422C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1438C>G
ENST00000695852.1:n.369C>G
ENST00000695853.1:c.*1321C>G	ENSP00000512218.1:n.*1321C>G
ENST00000423902.7:c.8262C>G MANE Select	ENSP00000392028.1:p.Asp2754Glu
ENST00000423902.6:c.8262C>G	ENSP00000392028.1:p.Asp2754Glu
ENST00000524602.5:c.2115C>G	ENSP00000437061.1:p.Asp705Glu
ENST00000528280.1:n.308C>G
NM_001316690.1:c.2115C>G	NP_001303619.1:p.Asp705Glu
NM_017780.3:c.8262C>G	NP_060250.2:p.Asp2754Glu
XM_011517553.1:c.8352C>G	XP_011515855.1:p.Asp2784Glu
XM_011517554.1:c.8352C>G	XP_011515856.1:p.Asp2784Glu
XM_011517555.1:c.8349C>G	XP_011515857.1:p.Asp2783Glu
XM_011517556.1:c.8130C>G	XP_011515858.1:p.Asp2710Glu
XM_011517557.1:c.6339C>G	XP_011515859.1:p.Asp2113Glu
XM_011517558.1:c.5889C>G	XP_011515860.1:p.Asp1963Glu
XM_011517559.1:c.5097C>G	XP_011515861.1:p.Asp1699Glu
XM_011517553.2:c.8352C>G	XP_011515855.1:p.Asp2784Glu
XM_011517554.3:c.8352C>G	XP_011515856.1:p.Asp2784Glu
XM_011517555.2:c.8349C>G	XP_011515857.1:p.Asp2783Glu
XM_017013612.1:c.8352C>G	XP_016869101.1:p.Asp2784Glu
XM_017013613.1:c.8259C>G	XP_016869102.1:p.Asp2753Glu
NM_017780.4:c.8262C>G MANE Select	NP_060250.2:p.Asp2754Glu