Canonical Allele Identifier: CA371299750

Gene: CHD7

Linked Data

• gnomAD v4: 8-60856454-C-G
• MyVariant Identifiers: chr8:g.61769013C>G (hg19) ; chr8:g.60856454C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856454C>G , CM000670.2:g.60856454C>G	GRCh38
NC_000008.10:g.61769013C>G , CM000670.1:g.61769013C>G	GRCh37
NC_000008.9:g.61931567C>G	NCBI36
NG_007009.1:g.182675C>G , LRG_176:g.182675C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.350C>G
ENST00000695853.1:c.*233C>G	ENSP00000512218.1:n.*233C>G
ENST00000423902.7:c.7174C>G MANE Select	ENSP00000392028.1:p.Leu2392Val
ENST00000423902.6:c.7174C>G	ENSP00000392028.1:p.Leu2392Val
ENST00000524602.5:c.1717-5775C>G	ENSP00000437061.1:n.1717-5775C>G
ENST00000529472.1:n.355C>G
NM_001316690.1:c.1717-5775C>G	NP_001303619.1:n.1717-5775C>G
NM_017780.3:c.7174C>G	NP_060250.2:p.Leu2392Val
XM_011517553.1:c.7264C>G	XP_011515855.1:p.Leu2422Val
XM_011517554.1:c.7264C>G	XP_011515856.1:p.Leu2422Val
XM_011517555.1:c.7261C>G	XP_011515857.1:p.Leu2421Val
XM_011517556.1:c.7264C>G	XP_011515858.1:p.Leu2422Val
XM_011517557.1:c.5251C>G	XP_011515859.1:p.Leu1751Val
XM_011517558.1:c.4801C>G	XP_011515860.1:p.Leu1601Val
XM_011517559.1:c.4009C>G	XP_011515861.1:p.Leu1337Val
XM_011517553.2:c.7264C>G	XP_011515855.1:p.Leu2422Val
XM_011517554.3:c.7264C>G	XP_011515856.1:p.Leu2422Val
XM_011517555.2:c.7261C>G	XP_011515857.1:p.Leu2421Val
XM_017013612.1:c.7264C>G	XP_016869101.1:p.Leu2422Val
XM_017013613.1:c.7171C>G	XP_016869102.1:p.Leu2391Val
NM_017780.4:c.7174C>G MANE Select	NP_060250.2:p.Leu2392Val