Canonical Allele Identifier: CA371324068

Gene: CHD7

Linked Data

• ClinVar Variation Id: 547195
• ClinVar RCV Id: RCV000659301 ; RCV001557861 ; RCV004026047
• dbSNP Id: rs1360515765
• gnomAD v4: 8-60852673-C-T
• MyVariant Identifiers: chr8:g.61765232C>T (hg19) ; chr8:g.60852673C>T (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852673C>T , CM000670.2:g.60852673C>T	GRCh38
NC_000008.10:g.61765232C>T , CM000670.1:g.61765232C>T	GRCh37
NC_000008.9:g.61927786C>T	NCBI36
NG_007009.1:g.178894C>T , LRG_176:g.178894C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6070C>T	ENSP00000512218.1:p.Arg2024Ter
ENST00000423902.7:c.6070C>T MANE Select	ENSP00000392028.1:p.Arg2024Ter
ENST00000423902.6:c.6070C>T	ENSP00000392028.1:p.Arg2024Ter
ENST00000524602.5:c.1717-9556C>T	ENSP00000437061.1:n.1717-9556C>T
NM_001316690.1:c.1717-9556C>T	NP_001303619.1:n.1717-9556C>T
NM_017780.3:c.6070C>T	NP_060250.2:p.Arg2024Ter
XM_011517553.1:c.6160C>T	XP_011515855.1:p.Arg2054Ter
XM_011517554.1:c.6160C>T	XP_011515856.1:p.Arg2054Ter
XM_011517555.1:c.6160C>T	XP_011515857.1:p.Arg2054Ter
XM_011517556.1:c.6160C>T	XP_011515858.1:p.Arg2054Ter
XM_011517557.1:c.4147C>T	XP_011515859.1:p.Arg1383Ter
XM_011517558.1:c.3697C>T	XP_011515860.1:p.Arg1233Ter
XM_011517559.1:c.2905C>T	XP_011515861.1:p.Arg969Ter
XM_011517553.2:c.6160C>T	XP_011515855.1:p.Arg2054Ter
XM_011517554.3:c.6160C>T	XP_011515856.1:p.Arg2054Ter
XM_011517555.2:c.6160C>T	XP_011515857.1:p.Arg2054Ter
XM_017013612.1:c.6160C>T	XP_016869101.1:p.Arg2054Ter
XM_017013613.1:c.6070C>T	XP_016869102.1:p.Arg2024Ter
NM_017780.4:c.6070C>T MANE Select	NP_060250.2:p.Arg2024Ter