Canonical Allele Identifier: CA177352607

Gene: CHD7

Linked Data

• ClinVar Variation Id: 908830
• ClinVar RCV Id: RCV001159524
• dbSNP Id: rs891268640
• MyVariant Identifiers: chr8:g.61761654C>T (hg19) ; chr8:g.60849095C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60849095C>T , CM000670.2:g.60849095C>T	GRCh38
NC_000008.10:g.61761654C>T , CM000670.1:g.61761654C>T	GRCh37
NC_000008.9:g.61924208C>T	NCBI36
NG_007009.1:g.175316C>T , LRG_176:g.175316C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5345C>T	ENSP00000512218.1:p.Pro1782Leu
ENST00000423902.7:c.5345C>T MANE Select	ENSP00000392028.1:p.Pro1782Leu
ENST00000423902.6:c.5345C>T	ENSP00000392028.1:p.Pro1782Leu
ENST00000524602.5:c.1717-13134C>T	ENSP00000437061.1:n.1717-13134C>T
NM_001316690.1:c.1717-13134C>T	NP_001303619.1:n.1717-13134C>T
NM_017780.3:c.5345C>T	NP_060250.2:p.Pro1782Leu
XM_011517553.1:c.5435C>T	XP_011515855.1:p.Pro1812Leu
XM_011517554.1:c.5435C>T	XP_011515856.1:p.Pro1812Leu
XM_011517555.1:c.5435C>T	XP_011515857.1:p.Pro1812Leu
XM_011517556.1:c.5435C>T	XP_011515858.1:p.Pro1812Leu
XM_011517557.1:c.3422C>T	XP_011515859.1:p.Pro1141Leu
XM_011517558.1:c.2972C>T	XP_011515860.1:p.Pro991Leu
XM_011517559.1:c.2180C>T	XP_011515861.1:p.Pro727Leu
XM_011517553.2:c.5435C>T	XP_011515855.1:p.Pro1812Leu
XM_011517554.3:c.5435C>T	XP_011515856.1:p.Pro1812Leu
XM_011517555.2:c.5435C>T	XP_011515857.1:p.Pro1812Leu
XM_017013612.1:c.5435C>T	XP_016869101.1:p.Pro1812Leu
XM_017013613.1:c.5345C>T	XP_016869102.1:p.Pro1782Leu
NM_017780.4:c.5345C>T MANE Select	NP_060250.2:p.Pro1782Leu