Canonical Allele Identifier: CA413190282

Gene: AKAP4

Linked Data

• dbSNP Id: rs1557203899
• gnomAD v2: X-49957721-G-C
• gnomAD v4: X-50193070-G-C
• MyVariant Identifiers: chrX:g.49957721G>C (hg19) ; chrX:g.50193070G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50193070G>C , CM000685.2:g.50193070G>C	GRCh38
NC_000023.10:g.49957721G>C , CM000685.1:g.49957721G>C	GRCh37
NC_000023.9:g.49844461G>C	NCBI36
NG_012552.1:g.12944C>G
NG_012552.2:g.12944C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.1643C>G MANE Select	ENSP00000351327.2:p.Ala548Gly
ENST00000358526.6:c.1643C>G	ENSP00000351327.2:p.Ala548Gly
ENST00000376064.7:c.1616C>G	ENSP00000365232.3:p.Ala539Gly
ENST00000448865.5:c.542-48C>G	ENSP00000402403.1:n.542-48C>G
ENST00000481402.5:n.1755C>G
NM_003886.2:c.1643C>G	NP_003877.2:p.Ala548Gly
NM_139289.1:c.1616C>G	NP_647450.1:p.Ala539Gly
NM_003886.3:c.1643C>G MANE Select	NP_003877.2:p.Ala548Gly
NM_139289.2:c.1616C>G	NP_647450.1:p.Ala539Gly