Canonical Allele Identifier: CA371307927

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777747T>A (hg19) ; chr8:g.60865188T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865188T>A , CM000670.2:g.60865188T>A	GRCh38
NC_000008.10:g.61777747T>A , CM000670.1:g.61777747T>A	GRCh37
NC_000008.9:g.61940301T>A	NCBI36
NG_007009.1:g.191409T>A , LRG_176:g.191409T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1425T>A
ENST00000695852.1:n.356T>A
ENST00000695853.1:c.*1308T>A	ENSP00000512218.1:n.*1308T>A
ENST00000423902.7:c.8249T>A MANE Select	ENSP00000392028.1:p.Phe2750Tyr
ENST00000423902.6:c.8249T>A	ENSP00000392028.1:p.Phe2750Tyr
ENST00000524602.5:c.2102T>A	ENSP00000437061.1:p.Phe701Tyr
ENST00000528280.1:n.295T>A
NM_001316690.1:c.2102T>A	NP_001303619.1:p.Phe701Tyr
NM_017780.3:c.8249T>A	NP_060250.2:p.Phe2750Tyr
XM_011517553.1:c.8339T>A	XP_011515855.1:p.Phe2780Tyr
XM_011517554.1:c.8339T>A	XP_011515856.1:p.Phe2780Tyr
XM_011517555.1:c.8336T>A	XP_011515857.1:p.Phe2779Tyr
XM_011517556.1:c.8117T>A	XP_011515858.1:p.Phe2706Tyr
XM_011517557.1:c.6326T>A	XP_011515859.1:p.Phe2109Tyr
XM_011517558.1:c.5876T>A	XP_011515860.1:p.Phe1959Tyr
XM_011517559.1:c.5084T>A	XP_011515861.1:p.Phe1695Tyr
XM_011517553.2:c.8339T>A	XP_011515855.1:p.Phe2780Tyr
XM_011517554.3:c.8339T>A	XP_011515856.1:p.Phe2780Tyr
XM_011517555.2:c.8336T>A	XP_011515857.1:p.Phe2779Tyr
XM_017013612.1:c.8339T>A	XP_016869101.1:p.Phe2780Tyr
XM_017013613.1:c.8246T>A	XP_016869102.1:p.Phe2749Tyr
NM_017780.4:c.8249T>A MANE Select	NP_060250.2:p.Phe2750Tyr