Canonical Allele Identifier: CA388894152

Gene: CHD8

Linked Data

• ClinVar Variation Id: 2504335
• ClinVar RCV Id: RCV003231796
• MyVariant Identifiers: chr14:g.21868718G>A (hg19) ; chr14:g.21400559G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21400559G>A , CM000676.2:g.21400559G>A	GRCh38
NC_000014.8:g.21868718G>A , CM000676.1:g.21868718G>A	GRCh37
NC_000014.7:g.20938558G>A	NCBI36
NG_021249.1:g.41740C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.3587C>T	ENSP00000406288.3:p.Thr1196Ile
ENST00000555935.2:c.2100C>T
ENST00000555962.6:c.265-252C>T	ENSP00000495174.1:n.265-252C>T
ENST00000557364.6:c.4424C>T	ENSP00000451601.1:p.Thr1475Ile
ENST00000643469.1:c.4424C>T	ENSP00000495070.1:p.Thr1475Ile
ENST00000645206.1:n.2938C>T
ENST00000645929.1:c.3587C>T	ENSP00000494402.1:p.Thr1196Ile
ENST00000646340.1:c.4430C>T	ENSP00000496730.1:p.Thr1477Ile
ENST00000646558.1:n.1240C>T
ENST00000646647.2:c.4424C>T MANE Select	ENSP00000495240.1:p.Thr1475Ile
ENST00000399982.6:c.4424C>T	ENSP00000382863.2:p.Thr1475Ile
ENST00000430710.7:c.3587C>T	ENSP00000406288.3:p.Thr1196Ile
ENST00000555935.1:c.2100C>T
ENST00000555962.5:n.525-252C>T
ENST00000557364.5:c.4424C>T	ENSP00000451601.1:p.Thr1475Ile
NM_001170629.1:c.4424C>T	NP_001164100.1:p.Thr1475Ile
NM_020920.3:c.3587C>T	NP_065971.2:p.Thr1196Ile
NM_001170629.2:c.4424C>T MANE Select	NP_001164100.1:p.Thr1475Ile
NM_020920.4:c.3587C>T	NP_065971.2:p.Thr1196Ile