Canonical Allele Identifier: CA257591161

Gene: CHD8

Linked Data

• dbSNP Id: rs540742254
• gnomAD v3: 14-21391535-G-A
• gnomAD v4: 14-21391535-G-A
• MyVariant Identifiers: chr14:g.21859694G>A (hg19) ; chr14:g.21391535G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21391535G>A , CM000676.2:g.21391535G>A	GRCh38
NC_000014.8:g.21859694G>A , CM000676.1:g.21859694G>A	GRCh37
NC_000014.7:g.20929534G>A	NCBI36
NG_021249.1:g.50764C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.6156C>T	ENSP00000406288.3:p.Ala2052=
ENST00000553870.2:c.437+298C>T
ENST00000555935.2:c.4693C>T
ENST00000557364.6:c.6993C>T	ENSP00000451601.1:p.Ala2331=
ENST00000643469.1:c.6993C>T	ENSP00000495070.1:p.Ala2331=
ENST00000645206.1:n.6149C>T
ENST00000645929.1:c.6156C>T	ENSP00000494402.1:p.Ala2052=
ENST00000646647.2:c.6993C>T MANE Select	ENSP00000495240.1:p.Ala2331=
ENST00000399982.6:c.6993C>T	ENSP00000382863.2:p.Ala2331=
ENST00000430710.7:c.6156C>T	ENSP00000406288.3:p.Ala2052=
ENST00000553870.1:c.396+298C>T	ENSP00000451071.1:n.396+298C>T
ENST00000557364.5:c.6993C>T	ENSP00000451601.1:p.Ala2331=
NM_001170629.1:c.6993C>T	NP_001164100.1:p.Ala2331=
NM_020920.3:c.6156C>T	NP_065971.2:p.Ala2052=
XR_001750627.1:n.747G>A
NM_001170629.2:c.6993C>T MANE Select	NP_001164100.1:p.Ala2331=
NM_020920.4:c.6156C>T	NP_065971.2:p.Ala2052=