Canonical Allele Identifier: CA371304376

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773523A>T (hg19) ; chr8:g.60860964A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860964A>T , CM000670.2:g.60860964A>T	GRCh38
NC_000008.10:g.61773523A>T , CM000670.1:g.61773523A>T	GRCh37
NC_000008.9:g.61936077A>T	NCBI36
NG_007009.1:g.187185A>T , LRG_176:g.187185A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.845A>T
ENST00000695851.1:n.49A>T
ENST00000695853.1:c.*728A>T	ENSP00000512218.1:n.*728A>T
ENST00000423902.7:c.7669A>T MANE Select	ENSP00000392028.1:p.Ile2557Phe
ENST00000423902.6:c.7669A>T	ENSP00000392028.1:p.Ile2557Phe
ENST00000524602.5:c.1717-1265A>T	ENSP00000437061.1:n.1717-1265A>T
ENST00000531695.1:n.93A>T
ENST00000618450.1:n.61A>T
NM_001316690.1:c.1717-1265A>T	NP_001303619.1:n.1717-1265A>T
NM_017780.3:c.7669A>T	NP_060250.2:p.Ile2557Phe
XM_011517553.1:c.7759A>T	XP_011515855.1:p.Ile2587Phe
XM_011517554.1:c.7759A>T	XP_011515856.1:p.Ile2587Phe
XM_011517555.1:c.7756A>T	XP_011515857.1:p.Ile2586Phe
XM_011517556.1:c.7699-1232A>T	XP_011515858.1:n.7699-1232A>T
XM_011517557.1:c.5746A>T	XP_011515859.1:p.Ile1916Phe
XM_011517558.1:c.5296A>T	XP_011515860.1:p.Ile1766Phe
XM_011517559.1:c.4504A>T	XP_011515861.1:p.Ile1502Phe
XM_011517553.2:c.7759A>T	XP_011515855.1:p.Ile2587Phe
XM_011517554.3:c.7759A>T	XP_011515856.1:p.Ile2587Phe
XM_011517555.2:c.7756A>T	XP_011515857.1:p.Ile2586Phe
XM_017013612.1:c.7759A>T	XP_016869101.1:p.Ile2587Phe
XM_017013613.1:c.7666A>T	XP_016869102.1:p.Ile2556Phe
NM_017780.4:c.7669A>T MANE Select	NP_060250.2:p.Ile2557Phe