Canonical Allele Identifier: CA460846444

Gene: CHD7

Linked Data

• dbSNP Id: rs1805942043
• gnomAD v4: 8-60860966-T-C
• MyVariant Identifiers: chr8:g.61773525T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860966T>C , CM000670.2:g.60860966T>C	GRCh38
NC_000008.10:g.61773525T>C , CM000670.1:g.61773525T>C	GRCh37
NC_000008.9:g.61936079T>C	NCBI36
NG_007009.1:g.187187T>C , LRG_176:g.187187T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.847T>C
ENST00000695851.1:n.51T>C
ENST00000695853.1:c.*730T>C	ENSP00000512218.1:n.*730T>C
ENST00000423902.7:c.7671T>C MANE Select	ENSP00000392028.1:p.Ile2557=
ENST00000423902.6:c.7671T>C	ENSP00000392028.1:p.Ile2557=
ENST00000524602.5:c.1717-1263T>C	ENSP00000437061.1:n.1717-1263T>C
ENST00000531695.1:n.95T>C
ENST00000618450.1:n.63T>C
NM_001316690.1:c.1717-1263T>C	NP_001303619.1:n.1717-1263T>C
NM_017780.3:c.7671T>C	NP_060250.2:p.Ile2557=
XM_011517553.1:c.7761T>C	XP_011515855.1:p.Ile2587=
XM_011517554.1:c.7761T>C	XP_011515856.1:p.Ile2587=
XM_011517555.1:c.7758T>C	XP_011515857.1:p.Ile2586=
XM_011517556.1:c.7699-1230T>C	XP_011515858.1:n.7699-1230T>C
XM_011517557.1:c.5748T>C	XP_011515859.1:p.Ile1916=
XM_011517558.1:c.5298T>C	XP_011515860.1:p.Ile1766=
XM_011517559.1:c.4506T>C	XP_011515861.1:p.Ile1502=
XM_011517553.2:c.7761T>C	XP_011515855.1:p.Ile2587=
XM_011517554.3:c.7761T>C	XP_011515856.1:p.Ile2587=
XM_011517555.2:c.7758T>C	XP_011515857.1:p.Ile2586=
XM_017013612.1:c.7761T>C	XP_016869101.1:p.Ile2587=
XM_017013613.1:c.7668T>C	XP_016869102.1:p.Ile2556=
NM_017780.4:c.7671T>C MANE Select	NP_060250.2:p.Ile2557=