Canonical Allele Identifier: CA371308078

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777780T>A (hg19) ; chr8:g.60865221T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865221T>A , CM000670.2:g.60865221T>A	GRCh38
NC_000008.10:g.61777780T>A , CM000670.1:g.61777780T>A	GRCh37
NC_000008.9:g.61940334T>A	NCBI36
NG_007009.1:g.191442T>A , LRG_176:g.191442T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1458T>A
ENST00000695852.1:n.389T>A
ENST00000695853.1:c.*1341T>A	ENSP00000512218.1:n.*1341T>A
ENST00000423902.7:c.8282T>A MANE Select	ENSP00000392028.1:p.Leu2761His
ENST00000423902.6:c.8282T>A	ENSP00000392028.1:p.Leu2761His
ENST00000524602.5:c.2135T>A	ENSP00000437061.1:p.Leu712His
ENST00000528280.1:n.328T>A
NM_001316690.1:c.2135T>A	NP_001303619.1:p.Leu712His
NM_017780.3:c.8282T>A	NP_060250.2:p.Leu2761His
XM_011517553.1:c.8372T>A	XP_011515855.1:p.Leu2791His
XM_011517554.1:c.8372T>A	XP_011515856.1:p.Leu2791His
XM_011517555.1:c.8369T>A	XP_011515857.1:p.Leu2790His
XM_011517556.1:c.8150T>A	XP_011515858.1:p.Leu2717His
XM_011517557.1:c.6359T>A	XP_011515859.1:p.Leu2120His
XM_011517558.1:c.5909T>A	XP_011515860.1:p.Leu1970His
XM_011517559.1:c.5117T>A	XP_011515861.1:p.Leu1706His
XM_011517553.2:c.8372T>A	XP_011515855.1:p.Leu2791His
XM_011517554.3:c.8372T>A	XP_011515856.1:p.Leu2791His
XM_011517555.2:c.8369T>A	XP_011515857.1:p.Leu2790His
XM_017013612.1:c.8372T>A	XP_016869101.1:p.Leu2791His
XM_017013613.1:c.8279T>A	XP_016869102.1:p.Leu2760His
NM_017780.4:c.8282T>A MANE Select	NP_060250.2:p.Leu2761His