Canonical Allele Identifier: CA371307618

Gene: CHD7

Linked Data

• gnomAD v4: 8-60865125-C-G
• MyVariant Identifiers: chr8:g.61777684C>G (hg19) ; chr8:g.60865125C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865125C>G , CM000670.2:g.60865125C>G	GRCh38
NC_000008.10:g.61777684C>G , CM000670.1:g.61777684C>G	GRCh37
NC_000008.9:g.61940238C>G	NCBI36
NG_007009.1:g.191346C>G , LRG_176:g.191346C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1362C>G
ENST00000695852.1:n.293C>G
ENST00000695853.1:c.*1245C>G	ENSP00000512218.1:n.*1245C>G
ENST00000423902.7:c.8186C>G MANE Select	ENSP00000392028.1:p.Ala2729Gly
ENST00000423902.6:c.8186C>G	ENSP00000392028.1:p.Ala2729Gly
ENST00000524602.5:c.2039C>G	ENSP00000437061.1:p.Ala680Gly
ENST00000528280.1:n.232C>G
ENST00000532149.1:n.608C>G
ENST00000618450.1:n.4222C>G
NM_001316690.1:c.2039C>G	NP_001303619.1:p.Ala680Gly
NM_017780.3:c.8186C>G	NP_060250.2:p.Ala2729Gly
XM_011517553.1:c.8276C>G	XP_011515855.1:p.Ala2759Gly
XM_011517554.1:c.8276C>G	XP_011515856.1:p.Ala2759Gly
XM_011517555.1:c.8273C>G	XP_011515857.1:p.Ala2758Gly
XM_011517556.1:c.8054C>G	XP_011515858.1:p.Ala2685Gly
XM_011517557.1:c.6263C>G	XP_011515859.1:p.Ala2088Gly
XM_011517558.1:c.5813C>G	XP_011515860.1:p.Ala1938Gly
XM_011517559.1:c.5021C>G	XP_011515861.1:p.Ala1674Gly
XM_011517553.2:c.8276C>G	XP_011515855.1:p.Ala2759Gly
XM_011517554.3:c.8276C>G	XP_011515856.1:p.Ala2759Gly
XM_011517555.2:c.8273C>G	XP_011515857.1:p.Ala2758Gly
XM_017013612.1:c.8276C>G	XP_016869101.1:p.Ala2759Gly
XM_017013613.1:c.8183C>G	XP_016869102.1:p.Ala2728Gly
NM_017780.4:c.8186C>G MANE Select	NP_060250.2:p.Ala2729Gly