Canonical Allele Identifier: CA516679174

Gene: AKAP4

Linked Data

• gnomAD v4: X-50192349-C-A
• MyVariant Identifiers: chrX:g.49957000C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192349C>A , CM000685.2:g.50192349C>A	GRCh38
NC_000023.10:g.49957000C>A , CM000685.1:g.49957000C>A	GRCh37
NC_000023.9:g.49843740C>A	NCBI36
NG_012552.1:g.13665G>T
NG_012552.2:g.13665G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.2364G>T MANE Select	ENSP00000351327.2:p.Val788=
ENST00000358526.6:c.2364G>T	ENSP00000351327.2:p.Val788=
ENST00000376064.7:c.2337G>T	ENSP00000365232.3:p.Val779=
ENST00000481402.5:n.2476G>T
NM_003886.2:c.2364G>T	NP_003877.2:p.Val788=
NM_139289.1:c.2337G>T	NP_647450.1:p.Val779=
NM_003886.3:c.2364G>T MANE Select	NP_003877.2:p.Val788=
NM_139289.2:c.2337G>T	NP_647450.1:p.Val779=