Canonical Allele Identifier: CA371308876

Gene: CHD7

Linked Data

• gnomAD v4: 8-60865325-C-A
• MyVariant Identifiers: chr8:g.61777884C>A (hg19) ; chr8:g.60865325C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865325C>A , CM000670.2:g.60865325C>A	GRCh38
NC_000008.10:g.61777884C>A , CM000670.1:g.61777884C>A	GRCh37
NC_000008.9:g.61940438C>A	NCBI36
NG_007009.1:g.191546C>A , LRG_176:g.191546C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1562C>A
ENST00000695852.1:n.493C>A
ENST00000695853.1:c.*1445C>A	ENSP00000512218.1:n.*1445C>A
ENST00000423902.7:c.8386C>A MANE Select	ENSP00000392028.1:p.Leu2796Met
ENST00000423902.6:c.8386C>A	ENSP00000392028.1:p.Leu2796Met
ENST00000524602.5:c.2239C>A	ENSP00000437061.1:p.Leu747Met
ENST00000528280.1:n.432C>A
NM_001316690.1:c.2239C>A	NP_001303619.1:p.Leu747Met
NM_017780.3:c.8386C>A	NP_060250.2:p.Leu2796Met
XM_011517553.1:c.8476C>A	XP_011515855.1:p.Leu2826Met
XM_011517554.1:c.8476C>A	XP_011515856.1:p.Leu2826Met
XM_011517555.1:c.8473C>A	XP_011515857.1:p.Leu2825Met
XM_011517556.1:c.8254C>A	XP_011515858.1:p.Leu2752Met
XM_011517557.1:c.6463C>A	XP_011515859.1:p.Leu2155Met
XM_011517558.1:c.6013C>A	XP_011515860.1:p.Leu2005Met
XM_011517559.1:c.5221C>A	XP_011515861.1:p.Leu1741Met
XM_011517553.2:c.8476C>A	XP_011515855.1:p.Leu2826Met
XM_011517554.3:c.8476C>A	XP_011515856.1:p.Leu2826Met
XM_011517555.2:c.8473C>A	XP_011515857.1:p.Leu2825Met
XM_017013612.1:c.8476C>A	XP_016869101.1:p.Leu2826Met
XM_017013613.1:c.8383C>A	XP_016869102.1:p.Leu2795Met
NM_017780.4:c.8386C>A MANE Select	NP_060250.2:p.Leu2796Met