Canonical Allele Identifier: CA371309634

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777959T>A (hg19) ; chr8:g.60865400T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865400T>A , CM000670.2:g.60865400T>A	GRCh38
NC_000008.10:g.61777959T>A , CM000670.1:g.61777959T>A	GRCh37
NC_000008.9:g.61940513T>A	NCBI36
NG_007009.1:g.191621T>A , LRG_176:g.191621T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1637T>A
ENST00000695852.1:n.568T>A
ENST00000695853.1:c.*1520T>A	ENSP00000512218.1:n.*1520T>A
ENST00000423902.7:c.8461T>A MANE Select	ENSP00000392028.1:p.Ser2821Thr
ENST00000423902.6:c.8461T>A	ENSP00000392028.1:p.Ser2821Thr
ENST00000524602.5:c.2314T>A	ENSP00000437061.1:p.Ser772Thr
ENST00000528280.1:n.507T>A
NM_001316690.1:c.2314T>A	NP_001303619.1:p.Ser772Thr
NM_017780.3:c.8461T>A	NP_060250.2:p.Ser2821Thr
XM_011517553.1:c.8551T>A	XP_011515855.1:p.Ser2851Thr
XM_011517554.1:c.8551T>A	XP_011515856.1:p.Ser2851Thr
XM_011517555.1:c.8548T>A	XP_011515857.1:p.Ser2850Thr
XM_011517556.1:c.8329T>A	XP_011515858.1:p.Ser2777Thr
XM_011517557.1:c.6538T>A	XP_011515859.1:p.Ser2180Thr
XM_011517558.1:c.6088T>A	XP_011515860.1:p.Ser2030Thr
XM_011517559.1:c.5296T>A	XP_011515861.1:p.Ser1766Thr
XM_011517553.2:c.8551T>A	XP_011515855.1:p.Ser2851Thr
XM_011517554.3:c.8551T>A	XP_011515856.1:p.Ser2851Thr
XM_011517555.2:c.8548T>A	XP_011515857.1:p.Ser2850Thr
XM_017013612.1:c.8551T>A	XP_016869101.1:p.Ser2851Thr
XM_017013613.1:c.8458T>A	XP_016869102.1:p.Ser2820Thr
NM_017780.4:c.8461T>A MANE Select	NP_060250.2:p.Ser2821Thr