Canonical Allele Identifier: CA371304537

Gene: CHD7

Linked Data

• gnomAD v4: 8-60861010-T-A
• MyVariant Identifiers: chr8:g.61773569T>A (hg19) ; chr8:g.60861010T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861010T>A , CM000670.2:g.60861010T>A	GRCh38
NC_000008.10:g.61773569T>A , CM000670.1:g.61773569T>A	GRCh37
NC_000008.9:g.61936123T>A	NCBI36
NG_007009.1:g.187231T>A , LRG_176:g.187231T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.891T>A
ENST00000695851.1:n.95T>A
ENST00000695853.1:c.*774T>A	ENSP00000512218.1:n.*774T>A
ENST00000423902.7:c.7715T>A MANE Select	ENSP00000392028.1:p.Ile2572Asn
ENST00000423902.6:c.7715T>A	ENSP00000392028.1:p.Ile2572Asn
ENST00000524602.5:c.1717-1219T>A	ENSP00000437061.1:n.1717-1219T>A
ENST00000531695.1:n.139T>A
ENST00000618450.1:n.107T>A
NM_001316690.1:c.1717-1219T>A	NP_001303619.1:n.1717-1219T>A
NM_017780.3:c.7715T>A	NP_060250.2:p.Ile2572Asn
XM_011517553.1:c.7805T>A	XP_011515855.1:p.Ile2602Asn
XM_011517554.1:c.7805T>A	XP_011515856.1:p.Ile2602Asn
XM_011517555.1:c.7802T>A	XP_011515857.1:p.Ile2601Asn
XM_011517556.1:c.7699-1186T>A	XP_011515858.1:n.7699-1186T>A
XM_011517557.1:c.5792T>A	XP_011515859.1:p.Ile1931Asn
XM_011517558.1:c.5342T>A	XP_011515860.1:p.Ile1781Asn
XM_011517559.1:c.4550T>A	XP_011515861.1:p.Ile1517Asn
XM_011517553.2:c.7805T>A	XP_011515855.1:p.Ile2602Asn
XM_011517554.3:c.7805T>A	XP_011515856.1:p.Ile2602Asn
XM_011517555.2:c.7802T>A	XP_011515857.1:p.Ile2601Asn
XM_017013612.1:c.7805T>A	XP_016869101.1:p.Ile2602Asn
XM_017013613.1:c.7712T>A	XP_016869102.1:p.Ile2571Asn
NM_017780.4:c.7715T>A MANE Select	NP_060250.2:p.Ile2572Asn