Canonical Allele Identifier: CA371310449

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61778051A>T (hg19) ; chr8:g.60865492A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865492A>T , CM000670.2:g.60865492A>T	GRCh38
NC_000008.10:g.61778051A>T , CM000670.1:g.61778051A>T	GRCh37
NC_000008.9:g.61940605A>T	NCBI36
NG_007009.1:g.191713A>T , LRG_176:g.191713A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1729A>T
ENST00000695852.1:n.660A>T
ENST00000695853.1:c.*1612A>T	ENSP00000512218.1:n.*1612A>T
ENST00000423902.7:c.8553A>T MANE Select	ENSP00000392028.1:p.Glu2851Asp
ENST00000423902.6:c.8553A>T	ENSP00000392028.1:p.Glu2851Asp
ENST00000524602.5:c.2406A>T	ENSP00000437061.1:p.Glu802Asp
NM_001316690.1:c.2406A>T	NP_001303619.1:p.Glu802Asp
NM_017780.3:c.8553A>T	NP_060250.2:p.Glu2851Asp
XM_011517553.1:c.8643A>T	XP_011515855.1:p.Glu2881Asp
XM_011517554.1:c.8643A>T	XP_011515856.1:p.Glu2881Asp
XM_011517555.1:c.8640A>T	XP_011515857.1:p.Glu2880Asp
XM_011517556.1:c.8421A>T	XP_011515858.1:p.Glu2807Asp
XM_011517557.1:c.6630A>T	XP_011515859.1:p.Glu2210Asp
XM_011517558.1:c.6180A>T	XP_011515860.1:p.Glu2060Asp
XM_011517559.1:c.5388A>T	XP_011515861.1:p.Glu1796Asp
XM_011517553.2:c.8643A>T	XP_011515855.1:p.Glu2881Asp
XM_011517554.3:c.8643A>T	XP_011515856.1:p.Glu2881Asp
XM_011517555.2:c.8640A>T	XP_011515857.1:p.Glu2880Asp
XM_017013612.1:c.8643A>T	XP_016869101.1:p.Glu2881Asp
XM_017013613.1:c.8550A>T	XP_016869102.1:p.Glu2850Asp
NM_017780.4:c.8553A>T MANE Select	NP_060250.2:p.Glu2851Asp