Canonical Allele Identifier: CA388885337

Gene: CHD8

Linked Data

• gnomAD v4: 14-21429215-C-T
• MyVariant Identifiers: chr14:g.21897374C>T (hg19) ; chr14:g.21429215C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429215C>T , CM000676.2:g.21429215C>T	GRCh38
NC_000014.8:g.21897374C>T , CM000676.1:g.21897374C>T	GRCh37
NC_000014.7:g.20967214C>T	NCBI36
NG_021249.1:g.13084G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.127G>A	ENSP00000406288.3:p.Ala43Thr
ENST00000553651.2:n.2770G>A
ENST00000555962.6:c.-111+2596G>A	ENSP00000495174.1:n.-111+2596G>A
ENST00000557364.6:c.964G>A	ENSP00000451601.1:p.Ala322Thr
ENST00000642518.1:c.127G>A	ENSP00000496722.1:p.Ala43Thr
ENST00000643048.1:n.1259G>A
ENST00000643469.1:c.964G>A	ENSP00000495070.1:p.Ala322Thr
ENST00000645140.1:c.876G>A
ENST00000645929.1:c.127G>A	ENSP00000494402.1:p.Ala43Thr
ENST00000646063.1:c.1051G>A	ENSP00000496565.1:p.Ala351Thr
ENST00000646340.1:c.970G>A	ENSP00000496730.1:p.Ala324Thr
ENST00000646647.2:c.964G>A MANE Select	ENSP00000495240.1:p.Ala322Thr
ENST00000399982.6:c.964G>A	ENSP00000382863.2:p.Ala322Thr
ENST00000430710.7:c.127G>A	ENSP00000406288.3:p.Ala43Thr
ENST00000553283.1:c.217G>A	ENSP00000450860.1:p.Ala73Thr
ENST00000555962.5:n.150+2596G>A
ENST00000557364.5:c.964G>A	ENSP00000451601.1:p.Ala322Thr
NM_001170629.1:c.964G>A	NP_001164100.1:p.Ala322Thr
NM_020920.3:c.127G>A	NP_065971.2:p.Ala43Thr
NM_001170629.2:c.964G>A MANE Select	NP_001164100.1:p.Ala322Thr
NM_020920.4:c.127G>A	NP_065971.2:p.Ala43Thr