Canonical Allele Identifier: CA16612460

Gene: CHD7

Linked Data

• ClinVar Variation Id: 411189
• ClinVar RCV Id: RCV000462550
• dbSNP Id: rs773047607
• MyVariant Identifiers: chr8:g.61769124G>T (hg19) ; chr8:g.60856565G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856565G>T , CM000670.2:g.60856565G>T	GRCh38
NC_000008.10:g.61769124G>T , CM000670.1:g.61769124G>T	GRCh37
NC_000008.9:g.61931678G>T	NCBI36
NG_007009.1:g.182786G>T , LRG_176:g.182786G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695850.1:n.461G>T
ENST00000695853.1:c.*344G>T	ENSP00000512218.1:n.*344G>T
ENST00000423902.7:c.7285G>T MANE Select	ENSP00000392028.1:p.Glu2429Ter
ENST00000423902.6:c.7285G>T	ENSP00000392028.1:p.Glu2429Ter
ENST00000524602.5:c.1717-5664G>T	ENSP00000437061.1:n.1717-5664G>T
ENST00000529472.1:n.466G>T
NM_001316690.1:c.1717-5664G>T	NP_001303619.1:n.1717-5664G>T
NM_017780.3:c.7285G>T	NP_060250.2:p.Glu2429Ter
XM_011517553.1:c.7375G>T	XP_011515855.1:p.Glu2459Ter
XM_011517554.1:c.7375G>T	XP_011515856.1:p.Glu2459Ter
XM_011517555.1:c.7372G>T	XP_011515857.1:p.Glu2458Ter
XM_011517556.1:c.7375G>T	XP_011515858.1:p.Glu2459Ter
XM_011517557.1:c.5362G>T	XP_011515859.1:p.Glu1788Ter
XM_011517558.1:c.4912G>T	XP_011515860.1:p.Glu1638Ter
XM_011517559.1:c.4120G>T	XP_011515861.1:p.Glu1374Ter
XM_011517553.2:c.7375G>T	XP_011515855.1:p.Glu2459Ter
XM_011517554.3:c.7375G>T	XP_011515856.1:p.Glu2459Ter
XM_011517555.2:c.7372G>T	XP_011515857.1:p.Glu2458Ter
XM_017013612.1:c.7375G>T	XP_016869101.1:p.Glu2459Ter
XM_017013613.1:c.7282G>T	XP_016869102.1:p.Glu2428Ter
NM_017780.4:c.7285G>T MANE Select	NP_060250.2:p.Glu2429Ter