Canonical Allele Identifier: CA371307848

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1306150
• ClinVar RCV Id: RCV001767103
• dbSNP Id: rs2129759389
• MyVariant Identifiers: chr8:g.61777731C>G (hg19) ; chr8:g.60865172C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865172C>G , CM000670.2:g.60865172C>G	GRCh38
NC_000008.10:g.61777731C>G , CM000670.1:g.61777731C>G	GRCh37
NC_000008.9:g.61940285C>G	NCBI36
NG_007009.1:g.191393C>G , LRG_176:g.191393C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1409C>G
ENST00000695852.1:n.340C>G
ENST00000695853.1:c.*1292C>G	ENSP00000512218.1:n.*1292C>G
ENST00000423902.7:c.8233C>G MANE Select	ENSP00000392028.1:p.Leu2745Val
ENST00000423902.6:c.8233C>G	ENSP00000392028.1:p.Leu2745Val
ENST00000524602.5:c.2086C>G	ENSP00000437061.1:p.Leu696Val
ENST00000528280.1:n.279C>G
NM_001316690.1:c.2086C>G	NP_001303619.1:p.Leu696Val
NM_017780.3:c.8233C>G	NP_060250.2:p.Leu2745Val
XM_011517553.1:c.8323C>G	XP_011515855.1:p.Leu2775Val
XM_011517554.1:c.8323C>G	XP_011515856.1:p.Leu2775Val
XM_011517555.1:c.8320C>G	XP_011515857.1:p.Leu2774Val
XM_011517556.1:c.8101C>G	XP_011515858.1:p.Leu2701Val
XM_011517557.1:c.6310C>G	XP_011515859.1:p.Leu2104Val
XM_011517558.1:c.5860C>G	XP_011515860.1:p.Leu1954Val
XM_011517559.1:c.5068C>G	XP_011515861.1:p.Leu1690Val
XM_011517553.2:c.8323C>G	XP_011515855.1:p.Leu2775Val
XM_011517554.3:c.8323C>G	XP_011515856.1:p.Leu2775Val
XM_011517555.2:c.8320C>G	XP_011515857.1:p.Leu2774Val
XM_017013612.1:c.8323C>G	XP_016869101.1:p.Leu2775Val
XM_017013613.1:c.8230C>G	XP_016869102.1:p.Leu2744Val
NM_017780.4:c.8233C>G MANE Select	NP_060250.2:p.Leu2745Val