Canonical Allele Identifier: CA371309284

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777928T>G (hg19) ; chr8:g.60865369T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865369T>G , CM000670.2:g.60865369T>G	GRCh38
NC_000008.10:g.61777928T>G , CM000670.1:g.61777928T>G	GRCh37
NC_000008.9:g.61940482T>G	NCBI36
NG_007009.1:g.191590T>G , LRG_176:g.191590T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1606T>G
ENST00000695852.1:n.537T>G
ENST00000695853.1:c.*1489T>G	ENSP00000512218.1:n.*1489T>G
ENST00000423902.7:c.8430T>G MANE Select	ENSP00000392028.1:p.Phe2810Leu
ENST00000423902.6:c.8430T>G	ENSP00000392028.1:p.Phe2810Leu
ENST00000524602.5:c.2283T>G	ENSP00000437061.1:p.Phe761Leu
ENST00000528280.1:n.476T>G
NM_001316690.1:c.2283T>G	NP_001303619.1:p.Phe761Leu
NM_017780.3:c.8430T>G	NP_060250.2:p.Phe2810Leu
XM_011517553.1:c.8520T>G	XP_011515855.1:p.Phe2840Leu
XM_011517554.1:c.8520T>G	XP_011515856.1:p.Phe2840Leu
XM_011517555.1:c.8517T>G	XP_011515857.1:p.Phe2839Leu
XM_011517556.1:c.8298T>G	XP_011515858.1:p.Phe2766Leu
XM_011517557.1:c.6507T>G	XP_011515859.1:p.Phe2169Leu
XM_011517558.1:c.6057T>G	XP_011515860.1:p.Phe2019Leu
XM_011517559.1:c.5265T>G	XP_011515861.1:p.Phe1755Leu
XM_011517553.2:c.8520T>G	XP_011515855.1:p.Phe2840Leu
XM_011517554.3:c.8520T>G	XP_011515856.1:p.Phe2840Leu
XM_011517555.2:c.8517T>G	XP_011515857.1:p.Phe2839Leu
XM_017013612.1:c.8520T>G	XP_016869101.1:p.Phe2840Leu
XM_017013613.1:c.8427T>G	XP_016869102.1:p.Phe2809Leu
NM_017780.4:c.8430T>G MANE Select	NP_060250.2:p.Phe2810Leu