Canonical Allele Identifier: CA371309613

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777956C>G (hg19) ; chr8:g.60865397C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865397C>G , CM000670.2:g.60865397C>G	GRCh38
NC_000008.10:g.61777956C>G , CM000670.1:g.61777956C>G	GRCh37
NC_000008.9:g.61940510C>G	NCBI36
NG_007009.1:g.191618C>G , LRG_176:g.191618C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695850.1:n.1634C>G
ENST00000695852.1:n.565C>G
ENST00000695853.1:c.*1517C>G	ENSP00000512218.1:n.*1517C>G
ENST00000423902.7:c.8458C>G MANE Select	ENSP00000392028.1:p.Leu2820Val
ENST00000423902.6:c.8458C>G	ENSP00000392028.1:p.Leu2820Val
ENST00000524602.5:c.2311C>G	ENSP00000437061.1:p.Leu771Val
ENST00000528280.1:n.504C>G
NM_001316690.1:c.2311C>G	NP_001303619.1:p.Leu771Val
NM_017780.3:c.8458C>G	NP_060250.2:p.Leu2820Val
XM_011517553.1:c.8548C>G	XP_011515855.1:p.Leu2850Val
XM_011517554.1:c.8548C>G	XP_011515856.1:p.Leu2850Val
XM_011517555.1:c.8545C>G	XP_011515857.1:p.Leu2849Val
XM_011517556.1:c.8326C>G	XP_011515858.1:p.Leu2776Val
XM_011517557.1:c.6535C>G	XP_011515859.1:p.Leu2179Val
XM_011517558.1:c.6085C>G	XP_011515860.1:p.Leu2029Val
XM_011517559.1:c.5293C>G	XP_011515861.1:p.Leu1765Val
XM_011517553.2:c.8548C>G	XP_011515855.1:p.Leu2850Val
XM_011517554.3:c.8548C>G	XP_011515856.1:p.Leu2850Val
XM_011517555.2:c.8545C>G	XP_011515857.1:p.Leu2849Val
XM_017013612.1:c.8548C>G	XP_016869101.1:p.Leu2850Val
XM_017013613.1:c.8455C>G	XP_016869102.1:p.Leu2819Val
NM_017780.4:c.8458C>G MANE Select	NP_060250.2:p.Leu2820Val