Canonical Allele Identifier: CA371307919

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777746T>A (hg19) ; chr8:g.60865187T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865187T>A , CM000670.2:g.60865187T>A	GRCh38
NC_000008.10:g.61777746T>A , CM000670.1:g.61777746T>A	GRCh37
NC_000008.9:g.61940300T>A	NCBI36
NG_007009.1:g.191408T>A , LRG_176:g.191408T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1424T>A
ENST00000695852.1:n.355T>A
ENST00000695853.1:c.*1307T>A	ENSP00000512218.1:n.*1307T>A
ENST00000423902.7:c.8248T>A MANE Select	ENSP00000392028.1:p.Phe2750Ile
ENST00000423902.6:c.8248T>A	ENSP00000392028.1:p.Phe2750Ile
ENST00000524602.5:c.2101T>A	ENSP00000437061.1:p.Phe701Ile
ENST00000528280.1:n.294T>A
NM_001316690.1:c.2101T>A	NP_001303619.1:p.Phe701Ile
NM_017780.3:c.8248T>A	NP_060250.2:p.Phe2750Ile
XM_011517553.1:c.8338T>A	XP_011515855.1:p.Phe2780Ile
XM_011517554.1:c.8338T>A	XP_011515856.1:p.Phe2780Ile
XM_011517555.1:c.8335T>A	XP_011515857.1:p.Phe2779Ile
XM_011517556.1:c.8116T>A	XP_011515858.1:p.Phe2706Ile
XM_011517557.1:c.6325T>A	XP_011515859.1:p.Phe2109Ile
XM_011517558.1:c.5875T>A	XP_011515860.1:p.Phe1959Ile
XM_011517559.1:c.5083T>A	XP_011515861.1:p.Phe1695Ile
XM_011517553.2:c.8338T>A	XP_011515855.1:p.Phe2780Ile
XM_011517554.3:c.8338T>A	XP_011515856.1:p.Phe2780Ile
XM_011517555.2:c.8335T>A	XP_011515857.1:p.Phe2779Ile
XM_017013612.1:c.8338T>A	XP_016869101.1:p.Phe2780Ile
XM_017013613.1:c.8245T>A	XP_016869102.1:p.Phe2749Ile
NM_017780.4:c.8248T>A MANE Select	NP_060250.2:p.Phe2750Ile