Canonical Allele Identifier: CA484987134

Gene: CHD8

Linked Data

• gnomAD v4: 14-21415583-C-A
• MyVariant Identifiers: chr14:g.21883742C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415583C>A , CM000676.2:g.21415583C>A	GRCh38
NC_000014.8:g.21883742C>A , CM000676.1:g.21883742C>A	GRCh37
NC_000014.7:g.20953582C>A	NCBI36
NG_021249.1:g.26716G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1122G>T	ENSP00000406288.3:p.Val374=
ENST00000555962.6:c.-110-12541G>T	ENSP00000495174.1:n.-110-12541G>T
ENST00000557364.6:c.1959G>T	ENSP00000451601.1:p.Val653=
ENST00000642914.1:n.942G>T
ENST00000643469.1:c.1959G>T	ENSP00000495070.1:p.Val653=
ENST00000645140.1:c.1871G>T
ENST00000645206.1:n.473G>T
ENST00000645929.1:c.1122G>T	ENSP00000494402.1:p.Val374=
ENST00000646340.1:c.1965G>T	ENSP00000496730.1:p.Val655=
ENST00000646647.2:c.1959G>T MANE Select	ENSP00000495240.1:p.Val653=
ENST00000399982.6:c.1959G>T	ENSP00000382863.2:p.Val653=
ENST00000430710.7:c.1122G>T	ENSP00000406288.3:p.Val374=
ENST00000555962.5:n.151-12541G>T
ENST00000557364.5:c.1959G>T	ENSP00000451601.1:p.Val653=
NM_001170629.1:c.1959G>T	NP_001164100.1:p.Val653=
NM_020920.3:c.1122G>T	NP_065971.2:p.Val374=
NM_001170629.2:c.1959G>T MANE Select	NP_001164100.1:p.Val653=
NM_020920.4:c.1122G>T	NP_065971.2:p.Val374=