Canonical Allele Identifier: CA371304671

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773628G>T (hg19) ; chr8:g.60861069G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861069G>T , CM000670.2:g.60861069G>T	GRCh38
NC_000008.10:g.61773628G>T , CM000670.1:g.61773628G>T	GRCh37
NC_000008.9:g.61936182G>T	NCBI36
NG_007009.1:g.187290G>T , LRG_176:g.187290G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.950G>T
ENST00000695851.1:n.154G>T
ENST00000695853.1:c.*833G>T	ENSP00000512218.1:n.*833G>T
ENST00000423902.7:c.7774G>T MANE Select	ENSP00000392028.1:p.Val2592Phe
ENST00000423902.6:c.7774G>T	ENSP00000392028.1:p.Val2592Phe
ENST00000524602.5:c.1717-1160G>T	ENSP00000437061.1:n.1717-1160G>T
ENST00000531695.1:n.198G>T
ENST00000618450.1:n.166G>T
NM_001316690.1:c.1717-1160G>T	NP_001303619.1:n.1717-1160G>T
NM_017780.3:c.7774G>T	NP_060250.2:p.Val2592Phe
XM_011517553.1:c.7864G>T	XP_011515855.1:p.Val2622Phe
XM_011517554.1:c.7864G>T	XP_011515856.1:p.Val2622Phe
XM_011517555.1:c.7861G>T	XP_011515857.1:p.Val2621Phe
XM_011517556.1:c.7699-1127G>T	XP_011515858.1:n.7699-1127G>T
XM_011517557.1:c.5851G>T	XP_011515859.1:p.Val1951Phe
XM_011517558.1:c.5401G>T	XP_011515860.1:p.Val1801Phe
XM_011517559.1:c.4609G>T	XP_011515861.1:p.Val1537Phe
XM_011517553.2:c.7864G>T	XP_011515855.1:p.Val2622Phe
XM_011517554.3:c.7864G>T	XP_011515856.1:p.Val2622Phe
XM_011517555.2:c.7861G>T	XP_011515857.1:p.Val2621Phe
XM_017013612.1:c.7864G>T	XP_016869101.1:p.Val2622Phe
XM_017013613.1:c.7771G>T	XP_016869102.1:p.Val2591Phe
NM_017780.4:c.7774G>T MANE Select	NP_060250.2:p.Val2592Phe