Canonical Allele Identifier: CA461105887

Gene: CHD7

Linked Data

• dbSNP Id: rs1241293217
• gnomAD v4: 8-60865207-G-A
• COSMIC: COSM301933
• MyVariant Identifiers: chr8:g.61777766G>A (hg19) ; chr8:g.60865207G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865207G>A , CM000670.2:g.60865207G>A	GRCh38
NC_000008.10:g.61777766G>A , CM000670.1:g.61777766G>A	GRCh37
NC_000008.9:g.61940320G>A	NCBI36
NG_007009.1:g.191428G>A , LRG_176:g.191428G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1444G>A
ENST00000695852.1:n.375G>A
ENST00000695853.1:c.*1327G>A	ENSP00000512218.1:n.*1327G>A
ENST00000423902.7:c.8268G>A MANE Select	ENSP00000392028.1:p.Thr2756=
ENST00000423902.6:c.8268G>A	ENSP00000392028.1:p.Thr2756=
ENST00000524602.5:c.2121G>A	ENSP00000437061.1:p.Thr707=
ENST00000528280.1:n.314G>A
NM_001316690.1:c.2121G>A	NP_001303619.1:p.Thr707=
NM_017780.3:c.8268G>A	NP_060250.2:p.Thr2756=
XM_011517553.1:c.8358G>A	XP_011515855.1:p.Thr2786=
XM_011517554.1:c.8358G>A	XP_011515856.1:p.Thr2786=
XM_011517555.1:c.8355G>A	XP_011515857.1:p.Thr2785=
XM_011517556.1:c.8136G>A	XP_011515858.1:p.Thr2712=
XM_011517557.1:c.6345G>A	XP_011515859.1:p.Thr2115=
XM_011517558.1:c.5895G>A	XP_011515860.1:p.Thr1965=
XM_011517559.1:c.5103G>A	XP_011515861.1:p.Thr1701=
XM_011517553.2:c.8358G>A	XP_011515855.1:p.Thr2786=
XM_011517554.3:c.8358G>A	XP_011515856.1:p.Thr2786=
XM_011517555.2:c.8355G>A	XP_011515857.1:p.Thr2785=
XM_017013612.1:c.8358G>A	XP_016869101.1:p.Thr2786=
XM_017013613.1:c.8265G>A	XP_016869102.1:p.Thr2755=
NM_017780.4:c.8268G>A MANE Select	NP_060250.2:p.Thr2756=