Canonical Allele Identifier: CA4760962

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1407351
• ClinVar RCV Id: RCV001918397
• dbSNP Id: rs779381935
• ExAC: 8:61777687 C / T
• gnomAD v2: 8-61777687-C-T
• gnomAD v4: 8-60865128-C-T
• MyVariant Identifiers: chr8:g.61777687C>T (hg19) ; chr8:g.60865128C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865128C>T , CM000670.2:g.60865128C>T	GRCh38
NC_000008.10:g.61777687C>T , CM000670.1:g.61777687C>T	GRCh37
NC_000008.9:g.61940241C>T	NCBI36
NG_007009.1:g.191349C>T , LRG_176:g.191349C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1365C>T
ENST00000695852.1:n.296C>T
ENST00000695853.1:c.*1248C>T	ENSP00000512218.1:n.*1248C>T
ENST00000423902.7:c.8189C>T MANE Select	ENSP00000392028.1:p.Ala2730Val
ENST00000423902.6:c.8189C>T	ENSP00000392028.1:p.Ala2730Val
ENST00000524602.5:c.2042C>T	ENSP00000437061.1:p.Ala681Val
ENST00000528280.1:n.235C>T
ENST00000532149.1:n.611C>T
NM_001316690.1:c.2042C>T	NP_001303619.1:p.Ala681Val
NM_017780.3:c.8189C>T	NP_060250.2:p.Ala2730Val
XM_011517553.1:c.8279C>T	XP_011515855.1:p.Ala2760Val
XM_011517554.1:c.8279C>T	XP_011515856.1:p.Ala2760Val
XM_011517555.1:c.8276C>T	XP_011515857.1:p.Ala2759Val
XM_011517556.1:c.8057C>T	XP_011515858.1:p.Ala2686Val
XM_011517557.1:c.6266C>T	XP_011515859.1:p.Ala2089Val
XM_011517558.1:c.5816C>T	XP_011515860.1:p.Ala1939Val
XM_011517559.1:c.5024C>T	XP_011515861.1:p.Ala1675Val
XM_011517553.2:c.8279C>T	XP_011515855.1:p.Ala2760Val
XM_011517554.3:c.8279C>T	XP_011515856.1:p.Ala2760Val
XM_011517555.2:c.8276C>T	XP_011515857.1:p.Ala2759Val
XM_017013612.1:c.8279C>T	XP_016869101.1:p.Ala2760Val
XM_017013613.1:c.8186C>T	XP_016869102.1:p.Ala2729Val
NM_017780.4:c.8189C>T MANE Select	NP_060250.2:p.Ala2730Val