Canonical Allele Identifier: CA371307669

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2430712
• ClinVar RCV Id: RCV003129245
• MyVariant Identifiers: chr8:g.61777696C>A (hg19) ; chr8:g.60865137C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865137C>A , CM000670.2:g.60865137C>A	GRCh38
NC_000008.10:g.61777696C>A , CM000670.1:g.61777696C>A	GRCh37
NC_000008.9:g.61940250C>A	NCBI36
NG_007009.1:g.191358C>A , LRG_176:g.191358C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1374C>A
ENST00000695852.1:n.305C>A
ENST00000695853.1:c.*1257C>A	ENSP00000512218.1:n.*1257C>A
ENST00000423902.7:c.8198C>A MANE Select	ENSP00000392028.1:p.Ala2733Asp
ENST00000423902.6:c.8198C>A	ENSP00000392028.1:p.Ala2733Asp
ENST00000524602.5:c.2051C>A	ENSP00000437061.1:p.Ala684Asp
ENST00000528280.1:n.244C>A
NM_001316690.1:c.2051C>A	NP_001303619.1:p.Ala684Asp
NM_017780.3:c.8198C>A	NP_060250.2:p.Ala2733Asp
XM_011517553.1:c.8288C>A	XP_011515855.1:p.Ala2763Asp
XM_011517554.1:c.8288C>A	XP_011515856.1:p.Ala2763Asp
XM_011517555.1:c.8285C>A	XP_011515857.1:p.Ala2762Asp
XM_011517556.1:c.8066C>A	XP_011515858.1:p.Ala2689Asp
XM_011517557.1:c.6275C>A	XP_011515859.1:p.Ala2092Asp
XM_011517558.1:c.5825C>A	XP_011515860.1:p.Ala1942Asp
XM_011517559.1:c.5033C>A	XP_011515861.1:p.Ala1678Asp
XM_011517553.2:c.8288C>A	XP_011515855.1:p.Ala2763Asp
XM_011517554.3:c.8288C>A	XP_011515856.1:p.Ala2763Asp
XM_011517555.2:c.8285C>A	XP_011515857.1:p.Ala2762Asp
XM_017013612.1:c.8288C>A	XP_016869101.1:p.Ala2763Asp
XM_017013613.1:c.8195C>A	XP_016869102.1:p.Ala2732Asp
NM_017780.4:c.8198C>A MANE Select	NP_060250.2:p.Ala2733Asp