Canonical Allele Identifier: CA371304731

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773656A>T (hg19) ; chr8:g.60861097A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861097A>T , CM000670.2:g.60861097A>T	GRCh38
NC_000008.10:g.61773656A>T , CM000670.1:g.61773656A>T	GRCh37
NC_000008.9:g.61936210A>T	NCBI36
NG_007009.1:g.187318A>T , LRG_176:g.187318A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.978A>T
ENST00000695851.1:n.182A>T
ENST00000695853.1:c.*861A>T	ENSP00000512218.1:n.*861A>T
ENST00000423902.7:c.7802A>T MANE Select	ENSP00000392028.1:p.Tyr2601Phe
ENST00000423902.6:c.7802A>T	ENSP00000392028.1:p.Tyr2601Phe
ENST00000524602.5:c.1717-1132A>T	ENSP00000437061.1:n.1717-1132A>T
ENST00000531695.1:n.226A>T
ENST00000618450.1:n.194A>T
NM_001316690.1:c.1717-1132A>T	NP_001303619.1:n.1717-1132A>T
NM_017780.3:c.7802A>T	NP_060250.2:p.Tyr2601Phe
XM_011517553.1:c.7892A>T	XP_011515855.1:p.Tyr2631Phe
XM_011517554.1:c.7892A>T	XP_011515856.1:p.Tyr2631Phe
XM_011517555.1:c.7889A>T	XP_011515857.1:p.Tyr2630Phe
XM_011517556.1:c.7699-1099A>T	XP_011515858.1:n.7699-1099A>T
XM_011517557.1:c.5879A>T	XP_011515859.1:p.Tyr1960Phe
XM_011517558.1:c.5429A>T	XP_011515860.1:p.Tyr1810Phe
XM_011517559.1:c.4637A>T	XP_011515861.1:p.Tyr1546Phe
XM_011517553.2:c.7892A>T	XP_011515855.1:p.Tyr2631Phe
XM_011517554.3:c.7892A>T	XP_011515856.1:p.Tyr2631Phe
XM_011517555.2:c.7889A>T	XP_011515857.1:p.Tyr2630Phe
XM_017013612.1:c.7892A>T	XP_016869101.1:p.Tyr2631Phe
XM_017013613.1:c.7799A>T	XP_016869102.1:p.Tyr2600Phe
NM_017780.4:c.7802A>T MANE Select	NP_060250.2:p.Tyr2601Phe