Canonical Allele Identifier: CA4761006

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1303999
• ClinVar RCV Id: RCV001758292 ; RCV002477932
• dbSNP Id: rs770781688
• ExAC: 8:61777909 C / T
• gnomAD v2: 8-61777909-C-T
• gnomAD v4: 8-60865350-C-T
• MyVariant Identifiers: chr8:g.61777909C>T (hg19) ; chr8:g.60865350C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865350C>T , CM000670.2:g.60865350C>T	GRCh38
NC_000008.10:g.61777909C>T , CM000670.1:g.61777909C>T	GRCh37
NC_000008.9:g.61940463C>T	NCBI36
NG_007009.1:g.191571C>T , LRG_176:g.191571C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1587C>T
ENST00000695852.1:n.518C>T
ENST00000695853.1:c.*1470C>T	ENSP00000512218.1:n.*1470C>T
ENST00000423902.7:c.8411C>T MANE Select	ENSP00000392028.1:p.Ala2804Val
ENST00000423902.6:c.8411C>T	ENSP00000392028.1:p.Ala2804Val
ENST00000524602.5:c.2264C>T	ENSP00000437061.1:p.Ala755Val
ENST00000528280.1:n.457C>T
NM_001316690.1:c.2264C>T	NP_001303619.1:p.Ala755Val
NM_017780.3:c.8411C>T	NP_060250.2:p.Ala2804Val
XM_011517553.1:c.8501C>T	XP_011515855.1:p.Ala2834Val
XM_011517554.1:c.8501C>T	XP_011515856.1:p.Ala2834Val
XM_011517555.1:c.8498C>T	XP_011515857.1:p.Ala2833Val
XM_011517556.1:c.8279C>T	XP_011515858.1:p.Ala2760Val
XM_011517557.1:c.6488C>T	XP_011515859.1:p.Ala2163Val
XM_011517558.1:c.6038C>T	XP_011515860.1:p.Ala2013Val
XM_011517559.1:c.5246C>T	XP_011515861.1:p.Ala1749Val
XM_011517553.2:c.8501C>T	XP_011515855.1:p.Ala2834Val
XM_011517554.3:c.8501C>T	XP_011515856.1:p.Ala2834Val
XM_011517555.2:c.8498C>T	XP_011515857.1:p.Ala2833Val
XM_017013612.1:c.8501C>T	XP_016869101.1:p.Ala2834Val
XM_017013613.1:c.8408C>T	XP_016869102.1:p.Ala2803Val
NM_017780.4:c.8411C>T MANE Select	NP_060250.2:p.Ala2804Val