Canonical Allele Identifier: CA371308158

Gene: CHD7

Linked Data

• gnomAD v4: 8-60865236-C-A
• MyVariant Identifiers: chr8:g.61777795C>A (hg19) ; chr8:g.60865236C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865236C>A , CM000670.2:g.60865236C>A	GRCh38
NC_000008.10:g.61777795C>A , CM000670.1:g.61777795C>A	GRCh37
NC_000008.9:g.61940349C>A	NCBI36
NG_007009.1:g.191457C>A , LRG_176:g.191457C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1473C>A
ENST00000695852.1:n.404C>A
ENST00000695853.1:c.*1356C>A	ENSP00000512218.1:n.*1356C>A
ENST00000423902.7:c.8297C>A MANE Select	ENSP00000392028.1:p.Ser2766Ter
ENST00000423902.6:c.8297C>A	ENSP00000392028.1:p.Ser2766Ter
ENST00000524602.5:c.2150C>A	ENSP00000437061.1:p.Ser717Ter
ENST00000528280.1:n.343C>A
NM_001316690.1:c.2150C>A	NP_001303619.1:p.Ser717Ter
NM_017780.3:c.8297C>A	NP_060250.2:p.Ser2766Ter
XM_011517553.1:c.8387C>A	XP_011515855.1:p.Ser2796Ter
XM_011517554.1:c.8387C>A	XP_011515856.1:p.Ser2796Ter
XM_011517555.1:c.8384C>A	XP_011515857.1:p.Ser2795Ter
XM_011517556.1:c.8165C>A	XP_011515858.1:p.Ser2722Ter
XM_011517557.1:c.6374C>A	XP_011515859.1:p.Ser2125Ter
XM_011517558.1:c.5924C>A	XP_011515860.1:p.Ser1975Ter
XM_011517559.1:c.5132C>A	XP_011515861.1:p.Ser1711Ter
XM_011517553.2:c.8387C>A	XP_011515855.1:p.Ser2796Ter
XM_011517554.3:c.8387C>A	XP_011515856.1:p.Ser2796Ter
XM_011517555.2:c.8384C>A	XP_011515857.1:p.Ser2795Ter
XM_017013612.1:c.8387C>A	XP_016869101.1:p.Ser2796Ter
XM_017013613.1:c.8294C>A	XP_016869102.1:p.Ser2765Ter
NM_017780.4:c.8297C>A MANE Select	NP_060250.2:p.Ser2766Ter