Canonical Allele Identifier: CA371308034

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2268366
• ClinVar RCV Id: RCV002825973 ; RCV003314755
• MyVariant Identifiers: chr8:g.61777768G>T (hg19) ; chr8:g.60865209G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865209G>T , CM000670.2:g.60865209G>T	GRCh38
NC_000008.10:g.61777768G>T , CM000670.1:g.61777768G>T	GRCh37
NC_000008.9:g.61940322G>T	NCBI36
NG_007009.1:g.191430G>T , LRG_176:g.191430G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1446G>T
ENST00000695852.1:n.377G>T
ENST00000695853.1:c.*1329G>T	ENSP00000512218.1:n.*1329G>T
ENST00000423902.7:c.8270G>T MANE Select	ENSP00000392028.1:p.Ser2757Ile
ENST00000423902.6:c.8270G>T	ENSP00000392028.1:p.Ser2757Ile
ENST00000524602.5:c.2123G>T	ENSP00000437061.1:p.Ser708Ile
ENST00000528280.1:n.316G>T
NM_001316690.1:c.2123G>T	NP_001303619.1:p.Ser708Ile
NM_017780.3:c.8270G>T	NP_060250.2:p.Ser2757Ile
XM_011517553.1:c.8360G>T	XP_011515855.1:p.Ser2787Ile
XM_011517554.1:c.8360G>T	XP_011515856.1:p.Ser2787Ile
XM_011517555.1:c.8357G>T	XP_011515857.1:p.Ser2786Ile
XM_011517556.1:c.8138G>T	XP_011515858.1:p.Ser2713Ile
XM_011517557.1:c.6347G>T	XP_011515859.1:p.Ser2116Ile
XM_011517558.1:c.5897G>T	XP_011515860.1:p.Ser1966Ile
XM_011517559.1:c.5105G>T	XP_011515861.1:p.Ser1702Ile
XM_011517553.2:c.8360G>T	XP_011515855.1:p.Ser2787Ile
XM_011517554.3:c.8360G>T	XP_011515856.1:p.Ser2787Ile
XM_011517555.2:c.8357G>T	XP_011515857.1:p.Ser2786Ile
XM_017013612.1:c.8360G>T	XP_016869101.1:p.Ser2787Ile
XM_017013613.1:c.8267G>T	XP_016869102.1:p.Ser2756Ile
NM_017780.4:c.8270G>T MANE Select	NP_060250.2:p.Ser2757Ile