Canonical Allele Identifier: CA371325420

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2894902
• ClinVar RCV Id: RCV003603527
• MyVariant Identifiers: chr8:g.61765769T>G (hg19) ; chr8:g.60853210T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853210T>G , CM000670.2:g.60853210T>G	GRCh38
NC_000008.10:g.61765769T>G , CM000670.1:g.61765769T>G	GRCh37
NC_000008.9:g.61928323T>G	NCBI36
NG_007009.1:g.179431T>G , LRG_176:g.179431T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6485T>G	ENSP00000512218.1:p.Ile2162Ser
ENST00000423902.7:c.6485T>G MANE Select	ENSP00000392028.1:p.Ile2162Ser
ENST00000423902.6:c.6485T>G	ENSP00000392028.1:p.Ile2162Ser
ENST00000524602.5:c.1717-9019T>G	ENSP00000437061.1:n.1717-9019T>G
NM_001316690.1:c.1717-9019T>G	NP_001303619.1:n.1717-9019T>G
NM_017780.3:c.6485T>G	NP_060250.2:p.Ile2162Ser
XM_011517553.1:c.6575T>G	XP_011515855.1:p.Ile2192Ser
XM_011517554.1:c.6575T>G	XP_011515856.1:p.Ile2192Ser
XM_011517555.1:c.6575T>G	XP_011515857.1:p.Ile2192Ser
XM_011517556.1:c.6575T>G	XP_011515858.1:p.Ile2192Ser
XM_011517557.1:c.4562T>G	XP_011515859.1:p.Ile1521Ser
XM_011517558.1:c.4112T>G	XP_011515860.1:p.Ile1371Ser
XM_011517559.1:c.3320T>G	XP_011515861.1:p.Ile1107Ser
XM_011517553.2:c.6575T>G	XP_011515855.1:p.Ile2192Ser
XM_011517554.3:c.6575T>G	XP_011515856.1:p.Ile2192Ser
XM_011517555.2:c.6575T>G	XP_011515857.1:p.Ile2192Ser
XM_017013612.1:c.6575T>G	XP_016869101.1:p.Ile2192Ser
XM_017013613.1:c.6485T>G	XP_016869102.1:p.Ile2162Ser
NM_017780.4:c.6485T>G MANE Select	NP_060250.2:p.Ile2162Ser