Canonical Allele Identifier: CA371325400

Gene: CHD7

Linked Data

• dbSNP Id: rs1805547181
• MyVariant Identifiers: chr8:g.61765766A>G (hg19) ; chr8:g.60853207A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853207A>G , CM000670.2:g.60853207A>G	GRCh38
NC_000008.10:g.61765766A>G , CM000670.1:g.61765766A>G	GRCh37
NC_000008.9:g.61928320A>G	NCBI36
NG_007009.1:g.179428A>G , LRG_176:g.179428A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6482A>G	ENSP00000512218.1:p.His2161Arg
ENST00000423902.7:c.6482A>G MANE Select	ENSP00000392028.1:p.His2161Arg
ENST00000423902.6:c.6482A>G	ENSP00000392028.1:p.His2161Arg
ENST00000524602.5:c.1717-9022A>G	ENSP00000437061.1:n.1717-9022A>G
NM_001316690.1:c.1717-9022A>G	NP_001303619.1:n.1717-9022A>G
NM_017780.3:c.6482A>G	NP_060250.2:p.His2161Arg
XM_011517553.1:c.6572A>G	XP_011515855.1:p.His2191Arg
XM_011517554.1:c.6572A>G	XP_011515856.1:p.His2191Arg
XM_011517555.1:c.6572A>G	XP_011515857.1:p.His2191Arg
XM_011517556.1:c.6572A>G	XP_011515858.1:p.His2191Arg
XM_011517557.1:c.4559A>G	XP_011515859.1:p.His1520Arg
XM_011517558.1:c.4109A>G	XP_011515860.1:p.His1370Arg
XM_011517559.1:c.3317A>G	XP_011515861.1:p.His1106Arg
XM_011517553.2:c.6572A>G	XP_011515855.1:p.His2191Arg
XM_011517554.3:c.6572A>G	XP_011515856.1:p.His2191Arg
XM_011517555.2:c.6572A>G	XP_011515857.1:p.His2191Arg
XM_017013612.1:c.6572A>G	XP_016869101.1:p.His2191Arg
XM_017013613.1:c.6482A>G	XP_016869102.1:p.His2161Arg
NM_017780.4:c.6482A>G MANE Select	NP_060250.2:p.His2161Arg