Canonical Allele Identifier: CA371308072

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777778T>G (hg19) ; chr8:g.60865219T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865219T>G , CM000670.2:g.60865219T>G	GRCh38
NC_000008.10:g.61777778T>G , CM000670.1:g.61777778T>G	GRCh37
NC_000008.9:g.61940332T>G	NCBI36
NG_007009.1:g.191440T>G , LRG_176:g.191440T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1456T>G
ENST00000695852.1:n.387T>G
ENST00000695853.1:c.*1339T>G	ENSP00000512218.1:n.*1339T>G
ENST00000423902.7:c.8280T>G MANE Select	ENSP00000392028.1:p.Asn2760Lys
ENST00000423902.6:c.8280T>G	ENSP00000392028.1:p.Asn2760Lys
ENST00000524602.5:c.2133T>G	ENSP00000437061.1:p.Asn711Lys
ENST00000528280.1:n.326T>G
NM_001316690.1:c.2133T>G	NP_001303619.1:p.Asn711Lys
NM_017780.3:c.8280T>G	NP_060250.2:p.Asn2760Lys
XM_011517553.1:c.8370T>G	XP_011515855.1:p.Asn2790Lys
XM_011517554.1:c.8370T>G	XP_011515856.1:p.Asn2790Lys
XM_011517555.1:c.8367T>G	XP_011515857.1:p.Asn2789Lys
XM_011517556.1:c.8148T>G	XP_011515858.1:p.Asn2716Lys
XM_011517557.1:c.6357T>G	XP_011515859.1:p.Asn2119Lys
XM_011517558.1:c.5907T>G	XP_011515860.1:p.Asn1969Lys
XM_011517559.1:c.5115T>G	XP_011515861.1:p.Asn1705Lys
XM_011517553.2:c.8370T>G	XP_011515855.1:p.Asn2790Lys
XM_011517554.3:c.8370T>G	XP_011515856.1:p.Asn2790Lys
XM_011517555.2:c.8367T>G	XP_011515857.1:p.Asn2789Lys
XM_017013612.1:c.8370T>G	XP_016869101.1:p.Asn2790Lys
XM_017013613.1:c.8277T>G	XP_016869102.1:p.Asn2759Lys
NM_017780.4:c.8280T>G MANE Select	NP_060250.2:p.Asn2760Lys