Canonical Allele Identifier: CA371308395

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777823C>A (hg19) ; chr8:g.60865264C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865264C>A , CM000670.2:g.60865264C>A	GRCh38
NC_000008.10:g.61777823C>A , CM000670.1:g.61777823C>A	GRCh37
NC_000008.9:g.61940377C>A	NCBI36
NG_007009.1:g.191485C>A , LRG_176:g.191485C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1501C>A
ENST00000695852.1:n.432C>A
ENST00000695853.1:c.*1384C>A	ENSP00000512218.1:n.*1384C>A
ENST00000423902.7:c.8325C>A MANE Select	ENSP00000392028.1:p.Phe2775Leu
ENST00000423902.6:c.8325C>A	ENSP00000392028.1:p.Phe2775Leu
ENST00000524602.5:c.2178C>A	ENSP00000437061.1:p.Phe726Leu
ENST00000528280.1:n.371C>A
NM_001316690.1:c.2178C>A	NP_001303619.1:p.Phe726Leu
NM_017780.3:c.8325C>A	NP_060250.2:p.Phe2775Leu
XM_011517553.1:c.8415C>A	XP_011515855.1:p.Phe2805Leu
XM_011517554.1:c.8415C>A	XP_011515856.1:p.Phe2805Leu
XM_011517555.1:c.8412C>A	XP_011515857.1:p.Phe2804Leu
XM_011517556.1:c.8193C>A	XP_011515858.1:p.Phe2731Leu
XM_011517557.1:c.6402C>A	XP_011515859.1:p.Phe2134Leu
XM_011517558.1:c.5952C>A	XP_011515860.1:p.Phe1984Leu
XM_011517559.1:c.5160C>A	XP_011515861.1:p.Phe1720Leu
XM_011517553.2:c.8415C>A	XP_011515855.1:p.Phe2805Leu
XM_011517554.3:c.8415C>A	XP_011515856.1:p.Phe2805Leu
XM_011517555.2:c.8412C>A	XP_011515857.1:p.Phe2804Leu
XM_017013612.1:c.8415C>A	XP_016869101.1:p.Phe2805Leu
XM_017013613.1:c.8322C>A	XP_016869102.1:p.Phe2774Leu
NM_017780.4:c.8325C>A MANE Select	NP_060250.2:p.Phe2775Leu