Canonical Allele Identifier: CA371308917

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777890C>G (hg19) ; chr8:g.60865331C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865331C>G , CM000670.2:g.60865331C>G	GRCh38
NC_000008.10:g.61777890C>G , CM000670.1:g.61777890C>G	GRCh37
NC_000008.9:g.61940444C>G	NCBI36
NG_007009.1:g.191552C>G , LRG_176:g.191552C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1568C>G
ENST00000695852.1:n.499C>G
ENST00000695853.1:c.*1451C>G	ENSP00000512218.1:n.*1451C>G
ENST00000423902.7:c.8392C>G MANE Select	ENSP00000392028.1:p.Leu2798Val
ENST00000423902.6:c.8392C>G	ENSP00000392028.1:p.Leu2798Val
ENST00000524602.5:c.2245C>G	ENSP00000437061.1:p.Leu749Val
ENST00000528280.1:n.438C>G
NM_001316690.1:c.2245C>G	NP_001303619.1:p.Leu749Val
NM_017780.3:c.8392C>G	NP_060250.2:p.Leu2798Val
XM_011517553.1:c.8482C>G	XP_011515855.1:p.Leu2828Val
XM_011517554.1:c.8482C>G	XP_011515856.1:p.Leu2828Val
XM_011517555.1:c.8479C>G	XP_011515857.1:p.Leu2827Val
XM_011517556.1:c.8260C>G	XP_011515858.1:p.Leu2754Val
XM_011517557.1:c.6469C>G	XP_011515859.1:p.Leu2157Val
XM_011517558.1:c.6019C>G	XP_011515860.1:p.Leu2007Val
XM_011517559.1:c.5227C>G	XP_011515861.1:p.Leu1743Val
XM_011517553.2:c.8482C>G	XP_011515855.1:p.Leu2828Val
XM_011517554.3:c.8482C>G	XP_011515856.1:p.Leu2828Val
XM_011517555.2:c.8479C>G	XP_011515857.1:p.Leu2827Val
XM_017013612.1:c.8482C>G	XP_016869101.1:p.Leu2828Val
XM_017013613.1:c.8389C>G	XP_016869102.1:p.Leu2797Val
NM_017780.4:c.8392C>G MANE Select	NP_060250.2:p.Leu2798Val