Canonical Allele Identifier: CA371307401

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777653A>T (hg19) ; chr8:g.60865094A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865094A>T , CM000670.2:g.60865094A>T	GRCh38
NC_000008.10:g.61777653A>T , CM000670.1:g.61777653A>T	GRCh37
NC_000008.9:g.61940207A>T	NCBI36
NG_007009.1:g.191315A>T , LRG_176:g.191315A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1331A>T
ENST00000695852.1:n.262A>T
ENST00000695853.1:c.*1214A>T	ENSP00000512218.1:n.*1214A>T
ENST00000423902.7:c.8155A>T MANE Select	ENSP00000392028.1:p.Arg2719Ter
ENST00000423902.6:c.8155A>T	ENSP00000392028.1:p.Arg2719Ter
ENST00000524602.5:c.2008A>T	ENSP00000437061.1:p.Arg670Ter
ENST00000528280.1:n.201A>T
ENST00000532149.1:n.577A>T
ENST00000618450.1:n.4191A>T
NM_001316690.1:c.2008A>T	NP_001303619.1:p.Arg670Ter
NM_017780.3:c.8155A>T	NP_060250.2:p.Arg2719Ter
XM_011517553.1:c.8245A>T	XP_011515855.1:p.Arg2749Ter
XM_011517554.1:c.8245A>T	XP_011515856.1:p.Arg2749Ter
XM_011517555.1:c.8242A>T	XP_011515857.1:p.Arg2748Ter
XM_011517556.1:c.8023A>T	XP_011515858.1:p.Arg2675Ter
XM_011517557.1:c.6232A>T	XP_011515859.1:p.Arg2078Ter
XM_011517558.1:c.5782A>T	XP_011515860.1:p.Arg1928Ter
XM_011517559.1:c.4990A>T	XP_011515861.1:p.Arg1664Ter
XM_011517553.2:c.8245A>T	XP_011515855.1:p.Arg2749Ter
XM_011517554.3:c.8245A>T	XP_011515856.1:p.Arg2749Ter
XM_011517555.2:c.8242A>T	XP_011515857.1:p.Arg2748Ter
XM_017013612.1:c.8245A>T	XP_016869101.1:p.Arg2749Ter
XM_017013613.1:c.8152A>T	XP_016869102.1:p.Arg2718Ter
NM_017780.4:c.8155A>T MANE Select	NP_060250.2:p.Arg2719Ter