Canonical Allele Identifier: CA371304407

Gene: CHD7

Linked Data

• dbSNP Id: rs1586459958
• gnomAD v4: 8-60860971-C-T
• MyVariant Identifiers: chr8:g.61773530C>T (hg19) ; chr8:g.60860971C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860971C>T , CM000670.2:g.60860971C>T	GRCh38
NC_000008.10:g.61773530C>T , CM000670.1:g.61773530C>T	GRCh37
NC_000008.9:g.61936084C>T	NCBI36
NG_007009.1:g.187192C>T , LRG_176:g.187192C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.852C>T
ENST00000695851.1:n.56C>T
ENST00000695853.1:c.*735C>T	ENSP00000512218.1:n.*735C>T
ENST00000423902.7:c.7676C>T MANE Select	ENSP00000392028.1:p.Ser2559Phe
ENST00000423902.6:c.7676C>T	ENSP00000392028.1:p.Ser2559Phe
ENST00000524602.5:c.1717-1258C>T	ENSP00000437061.1:n.1717-1258C>T
ENST00000531695.1:n.100C>T
ENST00000618450.1:n.68C>T
NM_001316690.1:c.1717-1258C>T	NP_001303619.1:n.1717-1258C>T
NM_017780.3:c.7676C>T	NP_060250.2:p.Ser2559Phe
XM_011517553.1:c.7766C>T	XP_011515855.1:p.Ser2589Phe
XM_011517554.1:c.7766C>T	XP_011515856.1:p.Ser2589Phe
XM_011517555.1:c.7763C>T	XP_011515857.1:p.Ser2588Phe
XM_011517556.1:c.7699-1225C>T	XP_011515858.1:n.7699-1225C>T
XM_011517557.1:c.5753C>T	XP_011515859.1:p.Ser1918Phe
XM_011517558.1:c.5303C>T	XP_011515860.1:p.Ser1768Phe
XM_011517559.1:c.4511C>T	XP_011515861.1:p.Ser1504Phe
XM_011517553.2:c.7766C>T	XP_011515855.1:p.Ser2589Phe
XM_011517554.3:c.7766C>T	XP_011515856.1:p.Ser2589Phe
XM_011517555.2:c.7763C>T	XP_011515857.1:p.Ser2588Phe
XM_017013612.1:c.7766C>T	XP_016869101.1:p.Ser2589Phe
XM_017013613.1:c.7673C>T	XP_016869102.1:p.Ser2558Phe
NM_017780.4:c.7676C>T MANE Select	NP_060250.2:p.Ser2559Phe