Canonical Allele Identifier: CA371303382

Gene: CHD7

Linked Data

• ClinVar Variation Id: 985905
• ClinVar RCV Id: RCV001267060 ; RCV003603089
• dbSNP Id: rs1210884047
• gnomAD v3: 8-60742975-C-A
• gnomAD v4: 8-60742975-C-A
• MyVariant Identifiers: chr8:g.61655534C>A (hg19) ; chr8:g.60742975C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60742975C>A , CM000670.2:g.60742975C>A	GRCh38
NC_000008.10:g.61655534C>A , CM000670.1:g.61655534C>A	GRCh37
NC_000008.9:g.61818088C>A	NCBI36
NG_007009.1:g.69196C>A , LRG_176:g.69196C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2056C>A
ENST00000695849.1:n.2056C>A
ENST00000695853.1:c.1543C>A	ENSP00000512218.1:p.Pro515Thr
ENST00000700671.1:c.1543C>A	ENSP00000515139.1:p.Pro515Thr
ENST00000423902.7:c.1543C>A MANE Select	ENSP00000392028.1:p.Pro515Thr
ENST00000423902.6:c.1543C>A	ENSP00000392028.1:p.Pro515Thr
ENST00000524602.5:c.1543C>A	ENSP00000437061.1:p.Pro515Thr
ENST00000525508.1:c.1543C>A	ENSP00000436027.1:p.Pro515Thr
ENST00000527825.1:c.187C>A
NM_001316690.1:c.1543C>A	NP_001303619.1:p.Pro515Thr
NM_017780.3:c.1543C>A	NP_060250.2:p.Pro515Thr
XM_011517553.1:c.1543C>A	XP_011515855.1:p.Pro515Thr
XM_011517554.1:c.1543C>A	XP_011515856.1:p.Pro515Thr
XM_011517555.1:c.1543C>A	XP_011515857.1:p.Pro515Thr
XM_011517556.1:c.1543C>A	XP_011515858.1:p.Pro515Thr
XM_011517560.1:c.1543C>A	XP_011515862.1:p.Pro515Thr
XM_011517553.2:c.1543C>A	XP_011515855.1:p.Pro515Thr
XM_011517554.3:c.1543C>A	XP_011515856.1:p.Pro515Thr
XM_011517555.2:c.1543C>A	XP_011515857.1:p.Pro515Thr
XM_011517560.2:c.1543C>A	XP_011515862.1:p.Pro515Thr
XM_017013612.1:c.1543C>A	XP_016869101.1:p.Pro515Thr
XM_017013613.1:c.1543C>A	XP_016869102.1:p.Pro515Thr
NM_017780.4:c.1543C>A MANE Select	NP_060250.2:p.Pro515Thr