Canonical Allele Identifier: CA371304364

Gene: CHD7

Linked Data

• gnomAD v4: 8-60860962-A-G
• MyVariant Identifiers: chr8:g.61773521A>G (hg19) ; chr8:g.60860962A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860962A>G , CM000670.2:g.60860962A>G	GRCh38
NC_000008.10:g.61773521A>G , CM000670.1:g.61773521A>G	GRCh37
NC_000008.9:g.61936075A>G	NCBI36
NG_007009.1:g.187183A>G , LRG_176:g.187183A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.843A>G
ENST00000695851.1:n.47A>G
ENST00000695853.1:c.*726A>G	ENSP00000512218.1:n.*726A>G
ENST00000423902.7:c.7667A>G MANE Select	ENSP00000392028.1:p.Asn2556Ser
ENST00000423902.6:c.7667A>G	ENSP00000392028.1:p.Asn2556Ser
ENST00000524602.5:c.1717-1267A>G	ENSP00000437061.1:n.1717-1267A>G
ENST00000531695.1:n.91A>G
ENST00000618450.1:n.59A>G
NM_001316690.1:c.1717-1267A>G	NP_001303619.1:n.1717-1267A>G
NM_017780.3:c.7667A>G	NP_060250.2:p.Asn2556Ser
XM_011517553.1:c.7757A>G	XP_011515855.1:p.Asn2586Ser
XM_011517554.1:c.7757A>G	XP_011515856.1:p.Asn2586Ser
XM_011517555.1:c.7754A>G	XP_011515857.1:p.Asn2585Ser
XM_011517556.1:c.7699-1234A>G	XP_011515858.1:n.7699-1234A>G
XM_011517557.1:c.5744A>G	XP_011515859.1:p.Asn1915Ser
XM_011517558.1:c.5294A>G	XP_011515860.1:p.Asn1765Ser
XM_011517559.1:c.4502A>G	XP_011515861.1:p.Asn1501Ser
XM_011517553.2:c.7757A>G	XP_011515855.1:p.Asn2586Ser
XM_011517554.3:c.7757A>G	XP_011515856.1:p.Asn2586Ser
XM_011517555.2:c.7754A>G	XP_011515857.1:p.Asn2585Ser
XM_017013612.1:c.7757A>G	XP_016869101.1:p.Asn2586Ser
XM_017013613.1:c.7664A>G	XP_016869102.1:p.Asn2555Ser
NM_017780.4:c.7667A>G MANE Select	NP_060250.2:p.Asn2556Ser