Canonical Allele Identifier: CA4760760

Gene: CHD7

Linked Data

• dbSNP Id: rs371278219
• ExAC: 8:61768969 C / T
• gnomAD v2: 8-61768969-C-T
• MyVariant Identifiers: chr8:g.61768969C>T (hg19) ; chr8:g.60856410C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856410C>T , CM000670.2:g.60856410C>T	GRCh38
NC_000008.10:g.61768969C>T , CM000670.1:g.61768969C>T	GRCh37
NC_000008.9:g.61931523C>T	NCBI36
NG_007009.1:g.182631C>T , LRG_176:g.182631C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.341-35C>T
ENST00000695853.1:c.*224-35C>T	ENSP00000512218.1:n.*224-35C>T
ENST00000423902.7:c.7165-35C>T MANE Select	ENSP00000392028.1:n.7165-35C>T
ENST00000423902.6:c.7165-35C>T	ENSP00000392028.1:n.7165-35C>T
ENST00000524602.5:c.1717-5819C>T	ENSP00000437061.1:n.1717-5819C>T
ENST00000529472.1:n.346-35C>T
NM_001316690.1:c.1717-5819C>T	NP_001303619.1:n.1717-5819C>T
NM_017780.3:c.7165-35C>T	NP_060250.2:n.7165-35C>T
XM_011517553.1:c.7255-35C>T	XP_011515855.1:n.7255-35C>T
XM_011517554.1:c.7255-35C>T	XP_011515856.1:n.7255-35C>T
XM_011517555.1:c.7252-35C>T	XP_011515857.1:n.7252-35C>T
XM_011517556.1:c.7255-35C>T	XP_011515858.1:n.7255-35C>T
XM_011517557.1:c.5242-35C>T	XP_011515859.1:n.5242-35C>T
XM_011517558.1:c.4792-35C>T	XP_011515860.1:n.4792-35C>T
XM_011517559.1:c.4000-35C>T	XP_011515861.1:n.4000-35C>T
XM_011517553.2:c.7255-35C>T	XP_011515855.1:n.7255-35C>T
XM_011517554.3:c.7255-35C>T	XP_011515856.1:n.7255-35C>T
XM_011517555.2:c.7252-35C>T	XP_011515857.1:n.7252-35C>T
XM_017013612.1:c.7255-35C>T	XP_016869101.1:n.7255-35C>T
XM_017013613.1:c.7162-35C>T	XP_016869102.1:n.7162-35C>T
NM_017780.4:c.7165-35C>T MANE Select	NP_060250.2:n.7165-35C>T