Canonical Allele Identifier: CA460846574

Gene: CHD7

Linked Data

• dbSNP Id: rs1563669432
• gnomAD v4: 8-60861098-C-T
• MyVariant Identifiers: chr8:g.61773657C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861098C>T , CM000670.2:g.60861098C>T	GRCh38
NC_000008.10:g.61773657C>T , CM000670.1:g.61773657C>T	GRCh37
NC_000008.9:g.61936211C>T	NCBI36
NG_007009.1:g.187319C>T , LRG_176:g.187319C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.979C>T
ENST00000695851.1:n.183C>T
ENST00000695853.1:c.*862C>T	ENSP00000512218.1:n.*862C>T
ENST00000423902.7:c.7803C>T MANE Select	ENSP00000392028.1:p.Tyr2601=
ENST00000423902.6:c.7803C>T	ENSP00000392028.1:p.Tyr2601=
ENST00000524602.5:c.1717-1131C>T	ENSP00000437061.1:n.1717-1131C>T
ENST00000531695.1:n.227C>T
ENST00000618450.1:n.195C>T
NM_001316690.1:c.1717-1131C>T	NP_001303619.1:n.1717-1131C>T
NM_017780.3:c.7803C>T	NP_060250.2:p.Tyr2601=
XM_011517553.1:c.7893C>T	XP_011515855.1:p.Tyr2631=
XM_011517554.1:c.7893C>T	XP_011515856.1:p.Tyr2631=
XM_011517555.1:c.7890C>T	XP_011515857.1:p.Tyr2630=
XM_011517556.1:c.7699-1098C>T	XP_011515858.1:n.7699-1098C>T
XM_011517557.1:c.5880C>T	XP_011515859.1:p.Tyr1960=
XM_011517558.1:c.5430C>T	XP_011515860.1:p.Tyr1810=
XM_011517559.1:c.4638C>T	XP_011515861.1:p.Tyr1546=
XM_011517553.2:c.7893C>T	XP_011515855.1:p.Tyr2631=
XM_011517554.3:c.7893C>T	XP_011515856.1:p.Tyr2631=
XM_011517555.2:c.7890C>T	XP_011515857.1:p.Tyr2630=
XM_017013612.1:c.7893C>T	XP_016869101.1:p.Tyr2631=
XM_017013613.1:c.7800C>T	XP_016869102.1:p.Tyr2600=
NM_017780.4:c.7803C>T MANE Select	NP_060250.2:p.Tyr2601=