Canonical Allele Identifier: CA371309792

Gene: CHD7

Linked Data

• dbSNP Id: rs1373512004
• gnomAD v2: 8-61777977-A-G
• gnomAD v3: 8-60865418-A-G
• gnomAD v4: 8-60865418-A-G
• MyVariant Identifiers: chr8:g.61777977A>G (hg19) ; chr8:g.60865418A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865418A>G , CM000670.2:g.60865418A>G	GRCh38
NC_000008.10:g.61777977A>G , CM000670.1:g.61777977A>G	GRCh37
NC_000008.9:g.61940531A>G	NCBI36
NG_007009.1:g.191639A>G , LRG_176:g.191639A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1655A>G
ENST00000695852.1:n.586A>G
ENST00000695853.1:c.*1538A>G	ENSP00000512218.1:n.*1538A>G
ENST00000423902.7:c.8479A>G MANE Select	ENSP00000392028.1:p.Thr2827Ala
ENST00000423902.6:c.8479A>G	ENSP00000392028.1:p.Thr2827Ala
ENST00000524602.5:c.2332A>G	ENSP00000437061.1:p.Thr778Ala
ENST00000528280.1:n.525A>G
NM_001316690.1:c.2332A>G	NP_001303619.1:p.Thr778Ala
NM_017780.3:c.8479A>G	NP_060250.2:p.Thr2827Ala
XM_011517553.1:c.8569A>G	XP_011515855.1:p.Thr2857Ala
XM_011517554.1:c.8569A>G	XP_011515856.1:p.Thr2857Ala
XM_011517555.1:c.8566A>G	XP_011515857.1:p.Thr2856Ala
XM_011517556.1:c.8347A>G	XP_011515858.1:p.Thr2783Ala
XM_011517557.1:c.6556A>G	XP_011515859.1:p.Thr2186Ala
XM_011517558.1:c.6106A>G	XP_011515860.1:p.Thr2036Ala
XM_011517559.1:c.5314A>G	XP_011515861.1:p.Thr1772Ala
XM_011517553.2:c.8569A>G	XP_011515855.1:p.Thr2857Ala
XM_011517554.3:c.8569A>G	XP_011515856.1:p.Thr2857Ala
XM_011517555.2:c.8566A>G	XP_011515857.1:p.Thr2856Ala
XM_017013612.1:c.8569A>G	XP_016869101.1:p.Thr2857Ala
XM_017013613.1:c.8476A>G	XP_016869102.1:p.Thr2826Ala
NM_017780.4:c.8479A>G MANE Select	NP_060250.2:p.Thr2827Ala