Canonical Allele Identifier: CA4760120

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2198522
• ClinVar RCV Id: RCV002629451
• dbSNP Id: rs758410916
• ExAC: 8:61750623 T / G
• gnomAD v2: 8-61750623-T-G
• gnomAD v3: 8-60838064-T-G
• gnomAD v4: 8-60838064-T-G
• MyVariant Identifiers: chr8:g.61750623T>G (hg19) ; chr8:g.60838064T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60838064T>G , CM000670.2:g.60838064T>G	GRCh38
NC_000008.10:g.61750623T>G , CM000670.1:g.61750623T>G	GRCh37
NC_000008.9:g.61913177T>G	NCBI36
NG_007009.1:g.164285T>G , LRG_176:g.164285T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.4354-12T>G	ENSP00000512218.1:n.4354-12T>G
ENST00000423902.7:c.4354-12T>G MANE Select	ENSP00000392028.1:n.4354-12T>G
ENST00000423902.6:c.4354-12T>G	ENSP00000392028.1:n.4354-12T>G
ENST00000524602.5:c.1717-24165T>G	ENSP00000437061.1:n.1717-24165T>G
NM_001316690.1:c.1717-24165T>G	NP_001303619.1:n.1717-24165T>G
NM_017780.3:c.4354-12T>G	NP_060250.2:n.4354-12T>G
XM_011517553.1:c.4354-12T>G	XP_011515855.1:n.4354-12T>G
XM_011517554.1:c.4354-12T>G	XP_011515856.1:n.4354-12T>G
XM_011517555.1:c.4354-12T>G	XP_011515857.1:n.4354-12T>G
XM_011517556.1:c.4354-12T>G	XP_011515858.1:n.4354-12T>G
XM_011517557.1:c.2341-12T>G	XP_011515859.1:n.2341-12T>G
XM_011517558.1:c.1891-12T>G	XP_011515860.1:n.1891-12T>G
XM_011517559.1:c.1099-12T>G	XP_011515861.1:n.1099-12T>G
XM_011517560.1:c.4354-12T>G	XP_011515862.1:n.4354-12T>G
XM_011517553.2:c.4354-12T>G	XP_011515855.1:n.4354-12T>G
XM_011517554.3:c.4354-12T>G	XP_011515856.1:n.4354-12T>G
XM_011517555.2:c.4354-12T>G	XP_011515857.1:n.4354-12T>G
XM_011517560.2:c.4354-12T>G	XP_011515862.1:n.4354-12T>G
XM_017013612.1:c.4354-12T>G	XP_016869101.1:n.4354-12T>G
XM_017013613.1:c.4354-12T>G	XP_016869102.1:n.4354-12T>G
NM_017780.4:c.4354-12T>G MANE Select	NP_060250.2:n.4354-12T>G