Canonical Allele Identifier: CA371304323

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2853014
• ClinVar RCV Id: RCV003604946
• MyVariant Identifiers: chr8:g.61773511C>T (hg19) ; chr8:g.60860952C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860952C>T , CM000670.2:g.60860952C>T	GRCh38
NC_000008.10:g.61773511C>T , CM000670.1:g.61773511C>T	GRCh37
NC_000008.9:g.61936065C>T	NCBI36
NG_007009.1:g.187173C>T , LRG_176:g.187173C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695850.1:n.833C>T
ENST00000695851.1:n.37C>T
ENST00000695853.1:c.*716C>T	ENSP00000512218.1:n.*716C>T
ENST00000423902.7:c.7657C>T MANE Select	ENSP00000392028.1:p.Pro2553Ser
ENST00000423902.6:c.7657C>T	ENSP00000392028.1:p.Pro2553Ser
ENST00000524602.5:c.1717-1277C>T	ENSP00000437061.1:n.1717-1277C>T
ENST00000531695.1:n.81C>T
ENST00000618450.1:n.49C>T
NM_001316690.1:c.1717-1277C>T	NP_001303619.1:n.1717-1277C>T
NM_017780.3:c.7657C>T	NP_060250.2:p.Pro2553Ser
XM_011517553.1:c.7747C>T	XP_011515855.1:p.Pro2583Ser
XM_011517554.1:c.7747C>T	XP_011515856.1:p.Pro2583Ser
XM_011517555.1:c.7744C>T	XP_011515857.1:p.Pro2582Ser
XM_011517556.1:c.7699-1244C>T	XP_011515858.1:n.7699-1244C>T
XM_011517557.1:c.5734C>T	XP_011515859.1:p.Pro1912Ser
XM_011517558.1:c.5284C>T	XP_011515860.1:p.Pro1762Ser
XM_011517559.1:c.4492C>T	XP_011515861.1:p.Pro1498Ser
XM_011517553.2:c.7747C>T	XP_011515855.1:p.Pro2583Ser
XM_011517554.3:c.7747C>T	XP_011515856.1:p.Pro2583Ser
XM_011517555.2:c.7744C>T	XP_011515857.1:p.Pro2582Ser
XM_017013612.1:c.7747C>T	XP_016869101.1:p.Pro2583Ser
XM_017013613.1:c.7654C>T	XP_016869102.1:p.Pro2552Ser
NM_017780.4:c.7657C>T MANE Select	NP_060250.2:p.Pro2553Ser