Canonical Allele Identifier: CA10414110

Gene: AKAP4

Linked Data

• dbSNP Id: rs782510606
• ExAC: X:49956930 T / C
• gnomAD v2: X-49956930-T-C
• gnomAD v4: X-50192279-T-C
• MyVariant Identifiers: chrX:g.49956930T>C (hg19) ; chrX:g.50192279T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192279T>C , CM000685.2:g.50192279T>C	GRCh38
NC_000023.10:g.49956930T>C , CM000685.1:g.49956930T>C	GRCh37
NC_000023.9:g.49843670T>C	NCBI36
NG_012552.1:g.13735A>G
NG_012552.2:g.13735A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.2409+25A>G MANE Select	ENSP00000351327.2:n.2409+25A>G
ENST00000358526.6:c.2409+25A>G	ENSP00000351327.2:n.2409+25A>G
ENST00000376064.7:c.2382+25A>G	ENSP00000365232.3:n.2382+25A>G
ENST00000481402.5:n.2521+25A>G
NM_003886.2:c.2409+25A>G	NP_003877.2:n.2409+25A>G
NM_139289.1:c.2382+25A>G	NP_647450.1:n.2382+25A>G
NM_003886.3:c.2409+25A>G MANE Select	NP_003877.2:n.2409+25A>G
NM_139289.2:c.2382+25A>G	NP_647450.1:n.2382+25A>G