Canonical Allele Identifier: CA4760958

Gene: CHD7

Linked Data

• ClinVar Variation Id: 910664
• ClinVar RCV Id: RCV001162607 ; RCV001303651
• dbSNP Id: rs756347672
• ExAC: 8:61777666 G / A
• gnomAD v2: 8-61777666-G-A
• gnomAD v3: 8-60865107-G-A
• gnomAD v4: 8-60865107-G-A
• MyVariant Identifiers: chr8:g.61777666G>A (hg19) ; chr8:g.60865107G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865107G>A , CM000670.2:g.60865107G>A	GRCh38
NC_000008.10:g.61777666G>A , CM000670.1:g.61777666G>A	GRCh37
NC_000008.9:g.61940220G>A	NCBI36
NG_007009.1:g.191328G>A , LRG_176:g.191328G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1344G>A
ENST00000695852.1:n.275G>A
ENST00000695853.1:c.*1227G>A	ENSP00000512218.1:n.*1227G>A
ENST00000423902.7:c.8168G>A MANE Select	ENSP00000392028.1:p.Ser2723Asn
ENST00000423902.6:c.8168G>A	ENSP00000392028.1:p.Ser2723Asn
ENST00000524602.5:c.2021G>A	ENSP00000437061.1:p.Ser674Asn
ENST00000528280.1:n.214G>A
ENST00000532149.1:n.590G>A
ENST00000618450.1:n.4204G>A
NM_001316690.1:c.2021G>A	NP_001303619.1:p.Ser674Asn
NM_017780.3:c.8168G>A	NP_060250.2:p.Ser2723Asn
XM_011517553.1:c.8258G>A	XP_011515855.1:p.Ser2753Asn
XM_011517554.1:c.8258G>A	XP_011515856.1:p.Ser2753Asn
XM_011517555.1:c.8255G>A	XP_011515857.1:p.Ser2752Asn
XM_011517556.1:c.8036G>A	XP_011515858.1:p.Ser2679Asn
XM_011517557.1:c.6245G>A	XP_011515859.1:p.Ser2082Asn
XM_011517558.1:c.5795G>A	XP_011515860.1:p.Ser1932Asn
XM_011517559.1:c.5003G>A	XP_011515861.1:p.Ser1668Asn
XM_011517553.2:c.8258G>A	XP_011515855.1:p.Ser2753Asn
XM_011517554.3:c.8258G>A	XP_011515856.1:p.Ser2753Asn
XM_011517555.2:c.8255G>A	XP_011515857.1:p.Ser2752Asn
XM_017013612.1:c.8258G>A	XP_016869101.1:p.Ser2753Asn
XM_017013613.1:c.8165G>A	XP_016869102.1:p.Ser2722Asn
NM_017780.4:c.8168G>A MANE Select	NP_060250.2:p.Ser2723Asn