Canonical Allele Identifier: CA371309135

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777917C>A (hg19) ; chr8:g.60865358C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865358C>A , CM000670.2:g.60865358C>A	GRCh38
NC_000008.10:g.61777917C>A , CM000670.1:g.61777917C>A	GRCh37
NC_000008.9:g.61940471C>A	NCBI36
NG_007009.1:g.191579C>A , LRG_176:g.191579C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1595C>A
ENST00000695852.1:n.526C>A
ENST00000695853.1:c.*1478C>A	ENSP00000512218.1:n.*1478C>A
ENST00000423902.7:c.8419C>A MANE Select	ENSP00000392028.1:p.Pro2807Thr
ENST00000423902.6:c.8419C>A	ENSP00000392028.1:p.Pro2807Thr
ENST00000524602.5:c.2272C>A	ENSP00000437061.1:p.Pro758Thr
ENST00000528280.1:n.465C>A
NM_001316690.1:c.2272C>A	NP_001303619.1:p.Pro758Thr
NM_017780.3:c.8419C>A	NP_060250.2:p.Pro2807Thr
XM_011517553.1:c.8509C>A	XP_011515855.1:p.Pro2837Thr
XM_011517554.1:c.8509C>A	XP_011515856.1:p.Pro2837Thr
XM_011517555.1:c.8506C>A	XP_011515857.1:p.Pro2836Thr
XM_011517556.1:c.8287C>A	XP_011515858.1:p.Pro2763Thr
XM_011517557.1:c.6496C>A	XP_011515859.1:p.Pro2166Thr
XM_011517558.1:c.6046C>A	XP_011515860.1:p.Pro2016Thr
XM_011517559.1:c.5254C>A	XP_011515861.1:p.Pro1752Thr
XM_011517553.2:c.8509C>A	XP_011515855.1:p.Pro2837Thr
XM_011517554.3:c.8509C>A	XP_011515856.1:p.Pro2837Thr
XM_011517555.2:c.8506C>A	XP_011515857.1:p.Pro2836Thr
XM_017013612.1:c.8509C>A	XP_016869101.1:p.Pro2837Thr
XM_017013613.1:c.8416C>A	XP_016869102.1:p.Pro2806Thr
NM_017780.4:c.8419C>A MANE Select	NP_060250.2:p.Pro2807Thr