Canonical Allele Identifier: CA271333

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856532C>T , CM000670.2:g.60856532C>T	GRCh38
NC_000008.10:g.61769091C>T , CM000670.1:g.61769091C>T	GRCh37
NC_000008.9:g.61931645C>T	NCBI36
NG_007009.1:g.182753C>T , LRG_176:g.182753C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.428C>T
ENST00000695853.1:c.*311C>T	ENSP00000512218.1:n.*311C>T
ENST00000423902.7:c.7252C>T MANE Select	ENSP00000392028.1:p.Arg2418Ter
ENST00000423902.6:c.7252C>T	ENSP00000392028.1:p.Arg2418Ter
ENST00000524602.5:c.1717-5697C>T	ENSP00000437061.1:n.1717-5697C>T
ENST00000529472.1:n.433C>T
NM_001316690.1:c.1717-5697C>T	NP_001303619.1:n.1717-5697C>T
NM_017780.3:c.7252C>T	NP_060250.2:p.Arg2418Ter
XM_011517553.1:c.7342C>T	XP_011515855.1:p.Arg2448Ter
XM_011517554.1:c.7342C>T	XP_011515856.1:p.Arg2448Ter
XM_011517555.1:c.7339C>T	XP_011515857.1:p.Arg2447Ter
XM_011517556.1:c.7342C>T	XP_011515858.1:p.Arg2448Ter
XM_011517557.1:c.5329C>T	XP_011515859.1:p.Arg1777Ter
XM_011517558.1:c.4879C>T	XP_011515860.1:p.Arg1627Ter
XM_011517559.1:c.4087C>T	XP_011515861.1:p.Arg1363Ter
XM_011517553.2:c.7342C>T	XP_011515855.1:p.Arg2448Ter
XM_011517554.3:c.7342C>T	XP_011515856.1:p.Arg2448Ter
XM_011517555.2:c.7339C>T	XP_011515857.1:p.Arg2447Ter
XM_017013612.1:c.7342C>T	XP_016869101.1:p.Arg2448Ter
XM_017013613.1:c.7249C>T	XP_016869102.1:p.Arg2417Ter
NM_017780.4:c.7252C>T MANE Select	NP_060250.2:p.Arg2418Ter