Canonical Allele Identifier: CA371323826

Gene: CHD7

Linked Data

• ClinVar Variation Id: 593811
• ClinVar RCV Id: RCV000728953
• dbSNP Id: rs1563659730
• MyVariant Identifiers: chr8:g.61765133C>T (hg19) ; chr8:g.60852574C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852574C>T , CM000670.2:g.60852574C>T	GRCh38
NC_000008.10:g.61765133C>T , CM000670.1:g.61765133C>T	GRCh37
NC_000008.9:g.61927687C>T	NCBI36
NG_007009.1:g.178795C>T , LRG_176:g.178795C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5971C>T	ENSP00000512218.1:p.Gln1991Ter
ENST00000423902.7:c.5971C>T MANE Select	ENSP00000392028.1:p.Gln1991Ter
ENST00000423902.6:c.5971C>T	ENSP00000392028.1:p.Gln1991Ter
ENST00000524602.5:c.1717-9655C>T	ENSP00000437061.1:n.1717-9655C>T
ENST00000527921.1:n.462C>T
NM_001316690.1:c.1717-9655C>T	NP_001303619.1:n.1717-9655C>T
NM_017780.3:c.5971C>T	NP_060250.2:p.Gln1991Ter
XM_011517553.1:c.6061C>T	XP_011515855.1:p.Gln2021Ter
XM_011517554.1:c.6061C>T	XP_011515856.1:p.Gln2021Ter
XM_011517555.1:c.6061C>T	XP_011515857.1:p.Gln2021Ter
XM_011517556.1:c.6061C>T	XP_011515858.1:p.Gln2021Ter
XM_011517557.1:c.4048C>T	XP_011515859.1:p.Gln1350Ter
XM_011517558.1:c.3598C>T	XP_011515860.1:p.Gln1200Ter
XM_011517559.1:c.2806C>T	XP_011515861.1:p.Gln936Ter
XM_011517553.2:c.6061C>T	XP_011515855.1:p.Gln2021Ter
XM_011517554.3:c.6061C>T	XP_011515856.1:p.Gln2021Ter
XM_011517555.2:c.6061C>T	XP_011515857.1:p.Gln2021Ter
XM_017013612.1:c.6061C>T	XP_016869101.1:p.Gln2021Ter
XM_017013613.1:c.5971C>T	XP_016869102.1:p.Gln1991Ter
NM_017780.4:c.5971C>T MANE Select	NP_060250.2:p.Gln1991Ter