Canonical Allele Identifier: CA371304199

Gene: CHD7

Linked Data

• gnomAD v4: 8-60860925-G-T
• MyVariant Identifiers: chr8:g.61773484G>T (hg19) ; chr8:g.60860925G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860925G>T , CM000670.2:g.60860925G>T	GRCh38
NC_000008.10:g.61773484G>T , CM000670.1:g.61773484G>T	GRCh37
NC_000008.9:g.61936038G>T	NCBI36
NG_007009.1:g.187146G>T , LRG_176:g.187146G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.806G>T
ENST00000695851.1:n.10G>T
ENST00000695853.1:c.*689G>T	ENSP00000512218.1:n.*689G>T
ENST00000423902.7:c.7630G>T MANE Select	ENSP00000392028.1:p.Ala2544Ser
ENST00000423902.6:c.7630G>T	ENSP00000392028.1:p.Ala2544Ser
ENST00000524602.5:c.1717-1304G>T	ENSP00000437061.1:n.1717-1304G>T
ENST00000531695.1:n.54G>T
ENST00000618450.1:n.22G>T
NM_001316690.1:c.1717-1304G>T	NP_001303619.1:n.1717-1304G>T
NM_017780.3:c.7630G>T	NP_060250.2:p.Ala2544Ser
XM_011517553.1:c.7720G>T	XP_011515855.1:p.Ala2574Ser
XM_011517554.1:c.7720G>T	XP_011515856.1:p.Ala2574Ser
XM_011517555.1:c.7717G>T	XP_011515857.1:p.Ala2573Ser
XM_011517556.1:c.7699-1271G>T	XP_011515858.1:n.7699-1271G>T
XM_011517557.1:c.5707G>T	XP_011515859.1:p.Ala1903Ser
XM_011517558.1:c.5257G>T	XP_011515860.1:p.Ala1753Ser
XM_011517559.1:c.4465G>T	XP_011515861.1:p.Ala1489Ser
XM_011517553.2:c.7720G>T	XP_011515855.1:p.Ala2574Ser
XM_011517554.3:c.7720G>T	XP_011515856.1:p.Ala2574Ser
XM_011517555.2:c.7717G>T	XP_011515857.1:p.Ala2573Ser
XM_017013612.1:c.7720G>T	XP_016869101.1:p.Ala2574Ser
XM_017013613.1:c.7627G>T	XP_016869102.1:p.Ala2543Ser
NM_017780.4:c.7630G>T MANE Select	NP_060250.2:p.Ala2544Ser