Canonical Allele Identifier: CA371323873

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61765151T>A (hg19) ; chr8:g.60852592T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852592T>A , CM000670.2:g.60852592T>A	GRCh38
NC_000008.10:g.61765151T>A , CM000670.1:g.61765151T>A	GRCh37
NC_000008.9:g.61927705T>A	NCBI36
NG_007009.1:g.178813T>A , LRG_176:g.178813T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5989T>A	ENSP00000512218.1:p.Phe1997Ile
ENST00000423902.7:c.5989T>A MANE Select	ENSP00000392028.1:p.Phe1997Ile
ENST00000423902.6:c.5989T>A	ENSP00000392028.1:p.Phe1997Ile
ENST00000524602.5:c.1717-9637T>A	ENSP00000437061.1:n.1717-9637T>A
ENST00000527921.1:n.480T>A
NM_001316690.1:c.1717-9637T>A	NP_001303619.1:n.1717-9637T>A
NM_017780.3:c.5989T>A	NP_060250.2:p.Phe1997Ile
XM_011517553.1:c.6079T>A	XP_011515855.1:p.Phe2027Ile
XM_011517554.1:c.6079T>A	XP_011515856.1:p.Phe2027Ile
XM_011517555.1:c.6079T>A	XP_011515857.1:p.Phe2027Ile
XM_011517556.1:c.6079T>A	XP_011515858.1:p.Phe2027Ile
XM_011517557.1:c.4066T>A	XP_011515859.1:p.Phe1356Ile
XM_011517558.1:c.3616T>A	XP_011515860.1:p.Phe1206Ile
XM_011517559.1:c.2824T>A	XP_011515861.1:p.Phe942Ile
XM_011517553.2:c.6079T>A	XP_011515855.1:p.Phe2027Ile
XM_011517554.3:c.6079T>A	XP_011515856.1:p.Phe2027Ile
XM_011517555.2:c.6079T>A	XP_011515857.1:p.Phe2027Ile
XM_017013612.1:c.6079T>A	XP_016869101.1:p.Phe2027Ile
XM_017013613.1:c.5989T>A	XP_016869102.1:p.Phe1997Ile
NM_017780.4:c.5989T>A MANE Select	NP_060250.2:p.Phe1997Ile