Canonical Allele Identifier: CA371307382

Gene: CHD7

Linked Data

• gnomAD v4: 8-60865089-G-C
• MyVariant Identifiers: chr8:g.61777648G>C (hg19) ; chr8:g.60865089G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865089G>C , CM000670.2:g.60865089G>C	GRCh38
NC_000008.10:g.61777648G>C , CM000670.1:g.61777648G>C	GRCh37
NC_000008.9:g.61940202G>C	NCBI36
NG_007009.1:g.191310G>C , LRG_176:g.191310G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1326G>C
ENST00000695852.1:n.257G>C
ENST00000695853.1:c.*1209G>C	ENSP00000512218.1:n.*1209G>C
ENST00000423902.7:c.8150G>C MANE Select	ENSP00000392028.1:p.Arg2717Thr
ENST00000423902.6:c.8150G>C	ENSP00000392028.1:p.Arg2717Thr
ENST00000524602.5:c.2003G>C	ENSP00000437061.1:p.Arg668Thr
ENST00000528280.1:n.196G>C
ENST00000532149.1:n.572G>C
ENST00000618450.1:n.4186G>C
NM_001316690.1:c.2003G>C	NP_001303619.1:p.Arg668Thr
NM_017780.3:c.8150G>C	NP_060250.2:p.Arg2717Thr
XM_011517553.1:c.8240G>C	XP_011515855.1:p.Arg2747Thr
XM_011517554.1:c.8240G>C	XP_011515856.1:p.Arg2747Thr
XM_011517555.1:c.8237G>C	XP_011515857.1:p.Arg2746Thr
XM_011517556.1:c.8018G>C	XP_011515858.1:p.Arg2673Thr
XM_011517557.1:c.6227G>C	XP_011515859.1:p.Arg2076Thr
XM_011517558.1:c.5777G>C	XP_011515860.1:p.Arg1926Thr
XM_011517559.1:c.4985G>C	XP_011515861.1:p.Arg1662Thr
XM_011517553.2:c.8240G>C	XP_011515855.1:p.Arg2747Thr
XM_011517554.3:c.8240G>C	XP_011515856.1:p.Arg2747Thr
XM_011517555.2:c.8237G>C	XP_011515857.1:p.Arg2746Thr
XM_017013612.1:c.8240G>C	XP_016869101.1:p.Arg2747Thr
XM_017013613.1:c.8147G>C	XP_016869102.1:p.Arg2716Thr
NM_017780.4:c.8150G>C MANE Select	NP_060250.2:p.Arg2717Thr