Canonical Allele Identifier: CA371307700

Gene: CHD7

Linked Data

• gnomAD v4: 8-60865142-G-A
• MyVariant Identifiers: chr8:g.61777701G>A (hg19) ; chr8:g.60865142G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865142G>A , CM000670.2:g.60865142G>A	GRCh38
NC_000008.10:g.61777701G>A , CM000670.1:g.61777701G>A	GRCh37
NC_000008.9:g.61940255G>A	NCBI36
NG_007009.1:g.191363G>A , LRG_176:g.191363G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1379G>A
ENST00000695852.1:n.310G>A
ENST00000695853.1:c.*1262G>A	ENSP00000512218.1:n.*1262G>A
ENST00000423902.7:c.8203G>A MANE Select	ENSP00000392028.1:p.Val2735Met
ENST00000423902.6:c.8203G>A	ENSP00000392028.1:p.Val2735Met
ENST00000524602.5:c.2056G>A	ENSP00000437061.1:p.Val686Met
ENST00000528280.1:n.249G>A
NM_001316690.1:c.2056G>A	NP_001303619.1:p.Val686Met
NM_017780.3:c.8203G>A	NP_060250.2:p.Val2735Met
XM_011517553.1:c.8293G>A	XP_011515855.1:p.Val2765Met
XM_011517554.1:c.8293G>A	XP_011515856.1:p.Val2765Met
XM_011517555.1:c.8290G>A	XP_011515857.1:p.Val2764Met
XM_011517556.1:c.8071G>A	XP_011515858.1:p.Val2691Met
XM_011517557.1:c.6280G>A	XP_011515859.1:p.Val2094Met
XM_011517558.1:c.5830G>A	XP_011515860.1:p.Val1944Met
XM_011517559.1:c.5038G>A	XP_011515861.1:p.Val1680Met
XM_011517553.2:c.8293G>A	XP_011515855.1:p.Val2765Met
XM_011517554.3:c.8293G>A	XP_011515856.1:p.Val2765Met
XM_011517555.2:c.8290G>A	XP_011515857.1:p.Val2764Met
XM_017013612.1:c.8293G>A	XP_016869101.1:p.Val2765Met
XM_017013613.1:c.8200G>A	XP_016869102.1:p.Val2734Met
NM_017780.4:c.8203G>A MANE Select	NP_060250.2:p.Val2735Met