Canonical Allele Identifier: CA2687402658

Gene: CHD7

Linked Data

• gnomAD v4: 8-60849006-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60849006A>T , CM000670.2:g.60849006A>T	GRCh38
NC_000008.10:g.61761565A>T , CM000670.1:g.61761565A>T	GRCh37
NC_000008.9:g.61924119A>T	NCBI36
NG_007009.1:g.175227A>T , LRG_176:g.175227A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.5301-45A>T	ENSP00000512218.1:n.5301-45A>T
ENST00000423902.7:c.5301-45A>T MANE Select	ENSP00000392028.1:n.5301-45A>T
ENST00000423902.6:c.5301-45A>T	ENSP00000392028.1:n.5301-45A>T
ENST00000524602.5:c.1717-13223A>T	ENSP00000437061.1:n.1717-13223A>T
NM_001316690.1:c.1717-13223A>T	NP_001303619.1:n.1717-13223A>T
NM_017780.3:c.5301-45A>T	NP_060250.2:n.5301-45A>T
XM_011517553.1:c.5391-45A>T	XP_011515855.1:n.5391-45A>T
XM_011517554.1:c.5391-45A>T	XP_011515856.1:n.5391-45A>T
XM_011517555.1:c.5391-45A>T	XP_011515857.1:n.5391-45A>T
XM_011517556.1:c.5391-45A>T	XP_011515858.1:n.5391-45A>T
XM_011517557.1:c.3378-45A>T	XP_011515859.1:n.3378-45A>T
XM_011517558.1:c.2928-45A>T	XP_011515860.1:n.2928-45A>T
XM_011517559.1:c.2136-45A>T	XP_011515861.1:n.2136-45A>T
XM_011517553.2:c.5391-45A>T	XP_011515855.1:n.5391-45A>T
XM_011517554.3:c.5391-45A>T	XP_011515856.1:n.5391-45A>T
XM_011517555.2:c.5391-45A>T	XP_011515857.1:n.5391-45A>T
XM_017013612.1:c.5391-45A>T	XP_016869101.1:n.5391-45A>T
XM_017013613.1:c.5301-45A>T	XP_016869102.1:n.5301-45A>T
NM_017780.4:c.5301-45A>T MANE Select	NP_060250.2:n.5301-45A>T