Canonical Allele Identifier: CA371323911

Gene: CHD7

Linked Data

• gnomAD v4: 8-60852609-G-T
• MyVariant Identifiers: chr8:g.61765168G>T (hg19) ; chr8:g.60852609G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852609G>T , CM000670.2:g.60852609G>T	GRCh38
NC_000008.10:g.61765168G>T , CM000670.1:g.61765168G>T	GRCh37
NC_000008.9:g.61927722G>T	NCBI36
NG_007009.1:g.178830G>T , LRG_176:g.178830G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6006G>T	ENSP00000512218.1:p.Arg2002Ser
ENST00000423902.7:c.6006G>T MANE Select	ENSP00000392028.1:p.Arg2002Ser
ENST00000423902.6:c.6006G>T	ENSP00000392028.1:p.Arg2002Ser
ENST00000524602.5:c.1717-9620G>T	ENSP00000437061.1:n.1717-9620G>T
ENST00000527921.1:n.497G>T
NM_001316690.1:c.1717-9620G>T	NP_001303619.1:n.1717-9620G>T
NM_017780.3:c.6006G>T	NP_060250.2:p.Arg2002Ser
XM_011517553.1:c.6096G>T	XP_011515855.1:p.Arg2032Ser
XM_011517554.1:c.6096G>T	XP_011515856.1:p.Arg2032Ser
XM_011517555.1:c.6096G>T	XP_011515857.1:p.Arg2032Ser
XM_011517556.1:c.6096G>T	XP_011515858.1:p.Arg2032Ser
XM_011517557.1:c.4083G>T	XP_011515859.1:p.Arg1361Ser
XM_011517558.1:c.3633G>T	XP_011515860.1:p.Arg1211Ser
XM_011517559.1:c.2841G>T	XP_011515861.1:p.Arg947Ser
XM_011517553.2:c.6096G>T	XP_011515855.1:p.Arg2032Ser
XM_011517554.3:c.6096G>T	XP_011515856.1:p.Arg2032Ser
XM_011517555.2:c.6096G>T	XP_011515857.1:p.Arg2032Ser
XM_017013612.1:c.6096G>T	XP_016869101.1:p.Arg2032Ser
XM_017013613.1:c.6006G>T	XP_016869102.1:p.Arg2002Ser
NM_017780.4:c.6006G>T MANE Select	NP_060250.2:p.Arg2002Ser