Canonical Allele Identifier: CA4760308

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1919267
• ClinVar RCV Id: RCV002603833
• dbSNP Id: rs375374735
• ExAC: 8:61761078 C / T
• gnomAD v2: 8-61761078-C-T
• gnomAD v3: 8-60848519-C-T
• gnomAD v4: 8-60848519-C-T
• MyVariant Identifiers: chr8:g.61761078C>T (hg19) ; chr8:g.60848519C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60848519C>T , CM000670.2:g.60848519C>T	GRCh38
NC_000008.10:g.61761078C>T , CM000670.1:g.61761078C>T	GRCh37
NC_000008.9:g.61923632C>T	NCBI36
NG_007009.1:g.174740C>T , LRG_176:g.174740C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5215C>T	ENSP00000512218.1:p.Leu1739=
ENST00000423902.7:c.5215C>T MANE Select	ENSP00000392028.1:p.Leu1739=
ENST00000423902.6:c.5215C>T	ENSP00000392028.1:p.Leu1739=
ENST00000524602.5:c.1717-13710C>T	ENSP00000437061.1:n.1717-13710C>T
NM_001316690.1:c.1717-13710C>T	NP_001303619.1:n.1717-13710C>T
NM_017780.3:c.5215C>T	NP_060250.2:p.Leu1739=
XM_011517553.1:c.5305C>T	XP_011515855.1:p.Leu1769=
XM_011517554.1:c.5305C>T	XP_011515856.1:p.Leu1769=
XM_011517555.1:c.5305C>T	XP_011515857.1:p.Leu1769=
XM_011517556.1:c.5305C>T	XP_011515858.1:p.Leu1769=
XM_011517557.1:c.3292C>T	XP_011515859.1:p.Leu1098=
XM_011517558.1:c.2842C>T	XP_011515860.1:p.Leu948=
XM_011517559.1:c.2050C>T	XP_011515861.1:p.Leu684=
XM_011517553.2:c.5305C>T	XP_011515855.1:p.Leu1769=
XM_011517554.3:c.5305C>T	XP_011515856.1:p.Leu1769=
XM_011517555.2:c.5305C>T	XP_011515857.1:p.Leu1769=
XM_017013612.1:c.5305C>T	XP_016869101.1:p.Leu1769=
XM_017013613.1:c.5215C>T	XP_016869102.1:p.Leu1739=
NM_017780.4:c.5215C>T MANE Select	NP_060250.2:p.Leu1739=