Canonical Allele Identifier: CA257547797

Gene: CHD8

Linked Data

• dbSNP Id: rs896527653
• gnomAD v4: 14-21415613-A-G
• MyVariant Identifiers: chr14:g.21883772A>G (hg19) ; chr14:g.21415613A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415613A>G , CM000676.2:g.21415613A>G	GRCh38
NC_000014.8:g.21883772A>G , CM000676.1:g.21883772A>G	GRCh37
NC_000014.7:g.20953612A>G	NCBI36
NG_021249.1:g.26686T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1092T>C	ENSP00000406288.3:p.Ile364=
ENST00000555962.6:c.-110-12571T>C	ENSP00000495174.1:n.-110-12571T>C
ENST00000557364.6:c.1929T>C	ENSP00000451601.1:p.Ile643=
ENST00000642914.1:n.912T>C
ENST00000643469.1:c.1929T>C	ENSP00000495070.1:p.Ile643=
ENST00000645140.1:c.1841T>C
ENST00000645206.1:n.443T>C
ENST00000645929.1:c.1092T>C	ENSP00000494402.1:p.Ile364=
ENST00000646340.1:c.1935T>C	ENSP00000496730.1:p.Ile645=
ENST00000646647.2:c.1929T>C MANE Select	ENSP00000495240.1:p.Ile643=
ENST00000399982.6:c.1929T>C	ENSP00000382863.2:p.Ile643=
ENST00000430710.7:c.1092T>C	ENSP00000406288.3:p.Ile364=
ENST00000555962.5:n.151-12571T>C
ENST00000557364.5:c.1929T>C	ENSP00000451601.1:p.Ile643=
NM_001170629.1:c.1929T>C	NP_001164100.1:p.Ile643=
NM_020920.3:c.1092T>C	NP_065971.2:p.Ile364=
NM_001170629.2:c.1929T>C MANE Select	NP_001164100.1:p.Ile643=
NM_020920.4:c.1092T>C	NP_065971.2:p.Ile364=