Canonical Allele Identifier: CA371304434

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1069987
• ClinVar RCV Id: RCV001381986
• dbSNP Id: rs1563669203
• MyVariant Identifiers: chr8:g.61773538C>T (hg19) ; chr8:g.60860979C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860979C>T , CM000670.2:g.60860979C>T	GRCh38
NC_000008.10:g.61773538C>T , CM000670.1:g.61773538C>T	GRCh37
NC_000008.9:g.61936092C>T	NCBI36
NG_007009.1:g.187200C>T , LRG_176:g.187200C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.860C>T
ENST00000695851.1:n.64C>T
ENST00000695853.1:c.*743C>T	ENSP00000512218.1:n.*743C>T
ENST00000423902.7:c.7684C>T MANE Select	ENSP00000392028.1:p.Gln2562Ter
ENST00000423902.6:c.7684C>T	ENSP00000392028.1:p.Gln2562Ter
ENST00000524602.5:c.1717-1250C>T	ENSP00000437061.1:n.1717-1250C>T
ENST00000531695.1:n.108C>T
ENST00000618450.1:n.76C>T
NM_001316690.1:c.1717-1250C>T	NP_001303619.1:n.1717-1250C>T
NM_017780.3:c.7684C>T	NP_060250.2:p.Gln2562Ter
XM_011517553.1:c.7774C>T	XP_011515855.1:p.Gln2592Ter
XM_011517554.1:c.7774C>T	XP_011515856.1:p.Gln2592Ter
XM_011517555.1:c.7771C>T	XP_011515857.1:p.Gln2591Ter
XM_011517556.1:c.7699-1217C>T	XP_011515858.1:n.7699-1217C>T
XM_011517557.1:c.5761C>T	XP_011515859.1:p.Gln1921Ter
XM_011517558.1:c.5311C>T	XP_011515860.1:p.Gln1771Ter
XM_011517559.1:c.4519C>T	XP_011515861.1:p.Gln1507Ter
XM_011517553.2:c.7774C>T	XP_011515855.1:p.Gln2592Ter
XM_011517554.3:c.7774C>T	XP_011515856.1:p.Gln2592Ter
XM_011517555.2:c.7771C>T	XP_011515857.1:p.Gln2591Ter
XM_017013612.1:c.7774C>T	XP_016869101.1:p.Gln2592Ter
XM_017013613.1:c.7681C>T	XP_016869102.1:p.Gln2561Ter
NM_017780.4:c.7684C>T MANE Select	NP_060250.2:p.Gln2562Ter