Canonical Allele Identifier: CA371307422

Gene: CHD7

Linked Data

• dbSNP Id: rs1303742795
• gnomAD v2: 8-61777657-G-C
• gnomAD v4: 8-60865098-G-C
• MyVariant Identifiers: chr8:g.61777657G>C (hg19) ; chr8:g.60865098G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865098G>C , CM000670.2:g.60865098G>C	GRCh38
NC_000008.10:g.61777657G>C , CM000670.1:g.61777657G>C	GRCh37
NC_000008.9:g.61940211G>C	NCBI36
NG_007009.1:g.191319G>C , LRG_176:g.191319G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1335G>C
ENST00000695852.1:n.266G>C
ENST00000695853.1:c.*1218G>C	ENSP00000512218.1:n.*1218G>C
ENST00000423902.7:c.8159G>C MANE Select	ENSP00000392028.1:p.Arg2720Thr
ENST00000423902.6:c.8159G>C	ENSP00000392028.1:p.Arg2720Thr
ENST00000524602.5:c.2012G>C	ENSP00000437061.1:p.Arg671Thr
ENST00000528280.1:n.205G>C
ENST00000532149.1:n.581G>C
ENST00000618450.1:n.4195G>C
NM_001316690.1:c.2012G>C	NP_001303619.1:p.Arg671Thr
NM_017780.3:c.8159G>C	NP_060250.2:p.Arg2720Thr
XM_011517553.1:c.8249G>C	XP_011515855.1:p.Arg2750Thr
XM_011517554.1:c.8249G>C	XP_011515856.1:p.Arg2750Thr
XM_011517555.1:c.8246G>C	XP_011515857.1:p.Arg2749Thr
XM_011517556.1:c.8027G>C	XP_011515858.1:p.Arg2676Thr
XM_011517557.1:c.6236G>C	XP_011515859.1:p.Arg2079Thr
XM_011517558.1:c.5786G>C	XP_011515860.1:p.Arg1929Thr
XM_011517559.1:c.4994G>C	XP_011515861.1:p.Arg1665Thr
XM_011517553.2:c.8249G>C	XP_011515855.1:p.Arg2750Thr
XM_011517554.3:c.8249G>C	XP_011515856.1:p.Arg2750Thr
XM_011517555.2:c.8246G>C	XP_011515857.1:p.Arg2749Thr
XM_017013612.1:c.8249G>C	XP_016869101.1:p.Arg2750Thr
XM_017013613.1:c.8156G>C	XP_016869102.1:p.Arg2719Thr
NM_017780.4:c.8159G>C MANE Select	NP_060250.2:p.Arg2720Thr