Canonical Allele Identifier: CA371304628

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773611C>G (hg19) ; chr8:g.60861052C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861052C>G , CM000670.2:g.60861052C>G	GRCh38
NC_000008.10:g.61773611C>G , CM000670.1:g.61773611C>G	GRCh37
NC_000008.9:g.61936165C>G	NCBI36
NG_007009.1:g.187273C>G , LRG_176:g.187273C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.933C>G
ENST00000695851.1:n.137C>G
ENST00000695853.1:c.*816C>G	ENSP00000512218.1:n.*816C>G
ENST00000423902.7:c.7757C>G MANE Select	ENSP00000392028.1:p.Pro2586Arg
ENST00000423902.6:c.7757C>G	ENSP00000392028.1:p.Pro2586Arg
ENST00000524602.5:c.1717-1177C>G	ENSP00000437061.1:n.1717-1177C>G
ENST00000531695.1:n.181C>G
ENST00000618450.1:n.149C>G
NM_001316690.1:c.1717-1177C>G	NP_001303619.1:n.1717-1177C>G
NM_017780.3:c.7757C>G	NP_060250.2:p.Pro2586Arg
XM_011517553.1:c.7847C>G	XP_011515855.1:p.Pro2616Arg
XM_011517554.1:c.7847C>G	XP_011515856.1:p.Pro2616Arg
XM_011517555.1:c.7844C>G	XP_011515857.1:p.Pro2615Arg
XM_011517556.1:c.7699-1144C>G	XP_011515858.1:n.7699-1144C>G
XM_011517557.1:c.5834C>G	XP_011515859.1:p.Pro1945Arg
XM_011517558.1:c.5384C>G	XP_011515860.1:p.Pro1795Arg
XM_011517559.1:c.4592C>G	XP_011515861.1:p.Pro1531Arg
XM_011517553.2:c.7847C>G	XP_011515855.1:p.Pro2616Arg
XM_011517554.3:c.7847C>G	XP_011515856.1:p.Pro2616Arg
XM_011517555.2:c.7844C>G	XP_011515857.1:p.Pro2615Arg
XM_017013612.1:c.7847C>G	XP_016869101.1:p.Pro2616Arg
XM_017013613.1:c.7754C>G	XP_016869102.1:p.Pro2585Arg
NM_017780.4:c.7757C>G MANE Select	NP_060250.2:p.Pro2586Arg