Canonical Allele Identifier: CA371304585

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773592C>A (hg19) ; chr8:g.60861033C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861033C>A , CM000670.2:g.60861033C>A	GRCh38
NC_000008.10:g.61773592C>A , CM000670.1:g.61773592C>A	GRCh37
NC_000008.9:g.61936146C>A	NCBI36
NG_007009.1:g.187254C>A , LRG_176:g.187254C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.914C>A
ENST00000695851.1:n.118C>A
ENST00000695853.1:c.*797C>A	ENSP00000512218.1:n.*797C>A
ENST00000423902.7:c.7738C>A MANE Select	ENSP00000392028.1:p.Leu2580Met
ENST00000423902.6:c.7738C>A	ENSP00000392028.1:p.Leu2580Met
ENST00000524602.5:c.1717-1196C>A	ENSP00000437061.1:n.1717-1196C>A
ENST00000531695.1:n.162C>A
ENST00000618450.1:n.130C>A
NM_001316690.1:c.1717-1196C>A	NP_001303619.1:n.1717-1196C>A
NM_017780.3:c.7738C>A	NP_060250.2:p.Leu2580Met
XM_011517553.1:c.7828C>A	XP_011515855.1:p.Leu2610Met
XM_011517554.1:c.7828C>A	XP_011515856.1:p.Leu2610Met
XM_011517555.1:c.7825C>A	XP_011515857.1:p.Leu2609Met
XM_011517556.1:c.7699-1163C>A	XP_011515858.1:n.7699-1163C>A
XM_011517557.1:c.5815C>A	XP_011515859.1:p.Leu1939Met
XM_011517558.1:c.5365C>A	XP_011515860.1:p.Leu1789Met
XM_011517559.1:c.4573C>A	XP_011515861.1:p.Leu1525Met
XM_011517553.2:c.7828C>A	XP_011515855.1:p.Leu2610Met
XM_011517554.3:c.7828C>A	XP_011515856.1:p.Leu2610Met
XM_011517555.2:c.7825C>A	XP_011515857.1:p.Leu2609Met
XM_017013612.1:c.7828C>A	XP_016869101.1:p.Leu2610Met
XM_017013613.1:c.7735C>A	XP_016869102.1:p.Leu2579Met
NM_017780.4:c.7738C>A MANE Select	NP_060250.2:p.Leu2580Met