Canonical Allele Identifier: CA371304317

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1505825
• ClinVar RCV Id: RCV002035838
• dbSNP Id: rs1805941132
• gnomAD v3: 8-60860950-C-T
• gnomAD v4: 8-60860950-C-T
• MyVariant Identifiers: chr8:g.61773509C>T (hg19) ; chr8:g.60860950C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860950C>T , CM000670.2:g.60860950C>T	GRCh38
NC_000008.10:g.61773509C>T , CM000670.1:g.61773509C>T	GRCh37
NC_000008.9:g.61936063C>T	NCBI36
NG_007009.1:g.187171C>T , LRG_176:g.187171C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.831C>T
ENST00000695851.1:n.35C>T
ENST00000695853.1:c.*714C>T	ENSP00000512218.1:n.*714C>T
ENST00000423902.7:c.7655C>T MANE Select	ENSP00000392028.1:p.Pro2552Leu
ENST00000423902.6:c.7655C>T	ENSP00000392028.1:p.Pro2552Leu
ENST00000524602.5:c.1717-1279C>T	ENSP00000437061.1:n.1717-1279C>T
ENST00000531695.1:n.79C>T
ENST00000618450.1:n.47C>T
NM_001316690.1:c.1717-1279C>T	NP_001303619.1:n.1717-1279C>T
NM_017780.3:c.7655C>T	NP_060250.2:p.Pro2552Leu
XM_011517553.1:c.7745C>T	XP_011515855.1:p.Pro2582Leu
XM_011517554.1:c.7745C>T	XP_011515856.1:p.Pro2582Leu
XM_011517555.1:c.7742C>T	XP_011515857.1:p.Pro2581Leu
XM_011517556.1:c.7699-1246C>T	XP_011515858.1:n.7699-1246C>T
XM_011517557.1:c.5732C>T	XP_011515859.1:p.Pro1911Leu
XM_011517558.1:c.5282C>T	XP_011515860.1:p.Pro1761Leu
XM_011517559.1:c.4490C>T	XP_011515861.1:p.Pro1497Leu
XM_011517553.2:c.7745C>T	XP_011515855.1:p.Pro2582Leu
XM_011517554.3:c.7745C>T	XP_011515856.1:p.Pro2582Leu
XM_011517555.2:c.7742C>T	XP_011515857.1:p.Pro2581Leu
XM_017013612.1:c.7745C>T	XP_016869101.1:p.Pro2582Leu
XM_017013613.1:c.7652C>T	XP_016869102.1:p.Pro2551Leu
NM_017780.4:c.7655C>T MANE Select	NP_060250.2:p.Pro2552Leu