Canonical Allele Identifier: CA371299849

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61769032G>T (hg19) ; chr8:g.60856473G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856473G>T , CM000670.2:g.60856473G>T	GRCh38
NC_000008.10:g.61769032G>T , CM000670.1:g.61769032G>T	GRCh37
NC_000008.9:g.61931586G>T	NCBI36
NG_007009.1:g.182694G>T , LRG_176:g.182694G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.369G>T
ENST00000695853.1:c.*252G>T	ENSP00000512218.1:n.*252G>T
ENST00000423902.7:c.7193G>T MANE Select	ENSP00000392028.1:p.Arg2398Leu
ENST00000423902.6:c.7193G>T	ENSP00000392028.1:p.Arg2398Leu
ENST00000524602.5:c.1717-5756G>T	ENSP00000437061.1:n.1717-5756G>T
ENST00000529472.1:n.374G>T
NM_001316690.1:c.1717-5756G>T	NP_001303619.1:n.1717-5756G>T
NM_017780.3:c.7193G>T	NP_060250.2:p.Arg2398Leu
XM_011517553.1:c.7283G>T	XP_011515855.1:p.Arg2428Leu
XM_011517554.1:c.7283G>T	XP_011515856.1:p.Arg2428Leu
XM_011517555.1:c.7280G>T	XP_011515857.1:p.Arg2427Leu
XM_011517556.1:c.7283G>T	XP_011515858.1:p.Arg2428Leu
XM_011517557.1:c.5270G>T	XP_011515859.1:p.Arg1757Leu
XM_011517558.1:c.4820G>T	XP_011515860.1:p.Arg1607Leu
XM_011517559.1:c.4028G>T	XP_011515861.1:p.Arg1343Leu
XM_011517553.2:c.7283G>T	XP_011515855.1:p.Arg2428Leu
XM_011517554.3:c.7283G>T	XP_011515856.1:p.Arg2428Leu
XM_011517555.2:c.7280G>T	XP_011515857.1:p.Arg2427Leu
XM_017013612.1:c.7283G>T	XP_016869101.1:p.Arg2428Leu
XM_017013613.1:c.7190G>T	XP_016869102.1:p.Arg2397Leu
NM_017780.4:c.7193G>T MANE Select	NP_060250.2:p.Arg2398Leu