Canonical Allele Identifier: CA232419

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2038
• ClinVar RCV Id: RCV000002118 ; RCV000122607
• dbSNP Id: rs267606724
• MyVariant Identifiers: chr8:g.61754556C>T (hg19) ; chr8:g.60841997C>T (hg38)
• PubMed: PMID:18978652 ; PMID:26785492

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60841997C>T , CM000670.2:g.60841997C>T	GRCh38
NC_000008.10:g.61754556C>T , CM000670.1:g.61754556C>T	GRCh37
NC_000008.9:g.61917110C>T	NCBI36
NG_007009.1:g.168218C>T , LRG_176:g.168218C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.4795C>T	ENSP00000512218.1:p.Gln1599Ter
ENST00000423902.7:c.4795C>T MANE Select	ENSP00000392028.1:p.Gln1599Ter
ENST00000423902.6:c.4795C>T	ENSP00000392028.1:p.Gln1599Ter
ENST00000524602.5:c.1717-20232C>T	ENSP00000437061.1:n.1717-20232C>T
NM_001316690.1:c.1717-20232C>T	NP_001303619.1:n.1717-20232C>T
NM_017780.3:c.4795C>T	NP_060250.2:p.Gln1599Ter
XM_011517553.1:c.4795C>T	XP_011515855.1:p.Gln1599Ter
XM_011517554.1:c.4795C>T	XP_011515856.1:p.Gln1599Ter
XM_011517555.1:c.4795C>T	XP_011515857.1:p.Gln1599Ter
XM_011517556.1:c.4795C>T	XP_011515858.1:p.Gln1599Ter
XM_011517557.1:c.2782C>T	XP_011515859.1:p.Gln928Ter
XM_011517558.1:c.2332C>T	XP_011515860.1:p.Gln778Ter
XM_011517559.1:c.1540C>T	XP_011515861.1:p.Gln514Ter
XM_011517560.1:c.4795C>T	XP_011515862.1:p.Gln1599Ter
XM_011517553.2:c.4795C>T	XP_011515855.1:p.Gln1599Ter
XM_011517554.3:c.4795C>T	XP_011515856.1:p.Gln1599Ter
XM_011517555.2:c.4795C>T	XP_011515857.1:p.Gln1599Ter
XM_011517560.2:c.4795C>T	XP_011515862.1:p.Gln1599Ter
XM_017013612.1:c.4795C>T	XP_016869101.1:p.Gln1599Ter
XM_017013613.1:c.4795C>T	XP_016869102.1:p.Gln1599Ter
NM_017780.4:c.4795C>T MANE Select	NP_060250.2:p.Gln1599Ter