Canonical Allele Identifier: CA371307752

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777711C>G (hg19) ; chr8:g.60865152C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865152C>G , CM000670.2:g.60865152C>G	GRCh38
NC_000008.10:g.61777711C>G , CM000670.1:g.61777711C>G	GRCh37
NC_000008.9:g.61940265C>G	NCBI36
NG_007009.1:g.191373C>G , LRG_176:g.191373C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1389C>G
ENST00000695852.1:n.320C>G
ENST00000695853.1:c.*1272C>G	ENSP00000512218.1:n.*1272C>G
ENST00000423902.7:c.8213C>G MANE Select	ENSP00000392028.1:p.Thr2738Arg
ENST00000423902.6:c.8213C>G	ENSP00000392028.1:p.Thr2738Arg
ENST00000524602.5:c.2066C>G	ENSP00000437061.1:p.Thr689Arg
ENST00000528280.1:n.259C>G
NM_001316690.1:c.2066C>G	NP_001303619.1:p.Thr689Arg
NM_017780.3:c.8213C>G	NP_060250.2:p.Thr2738Arg
XM_011517553.1:c.8303C>G	XP_011515855.1:p.Thr2768Arg
XM_011517554.1:c.8303C>G	XP_011515856.1:p.Thr2768Arg
XM_011517555.1:c.8300C>G	XP_011515857.1:p.Thr2767Arg
XM_011517556.1:c.8081C>G	XP_011515858.1:p.Thr2694Arg
XM_011517557.1:c.6290C>G	XP_011515859.1:p.Thr2097Arg
XM_011517558.1:c.5840C>G	XP_011515860.1:p.Thr1947Arg
XM_011517559.1:c.5048C>G	XP_011515861.1:p.Thr1683Arg
XM_011517553.2:c.8303C>G	XP_011515855.1:p.Thr2768Arg
XM_011517554.3:c.8303C>G	XP_011515856.1:p.Thr2768Arg
XM_011517555.2:c.8300C>G	XP_011515857.1:p.Thr2767Arg
XM_017013612.1:c.8303C>G	XP_016869101.1:p.Thr2768Arg
XM_017013613.1:c.8210C>G	XP_016869102.1:p.Thr2737Arg
NM_017780.4:c.8213C>G MANE Select	NP_060250.2:p.Thr2738Arg