Canonical Allele Identifier: CA413189267

Gene: AKAP4

Linked Data

• dbSNP Id: rs1557203859
• gnomAD v2: X-49957492-C-A
• gnomAD v4: X-50192841-C-A
• MyVariant Identifiers: chrX:g.49957492C>A (hg19) ; chrX:g.50192841C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192841C>A , CM000685.2:g.50192841C>A	GRCh38
NC_000023.10:g.49957492C>A , CM000685.1:g.49957492C>A	GRCh37
NC_000023.9:g.49844232C>A	NCBI36
NG_012552.1:g.13173G>T
NG_012552.2:g.13173G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.1872G>T MANE Select	ENSP00000351327.2:p.Met624Ile
ENST00000358526.6:c.1872G>T	ENSP00000351327.2:p.Met624Ile
ENST00000376064.7:c.1845G>T	ENSP00000365232.3:p.Met615Ile
ENST00000481402.5:n.1984G>T
NM_003886.2:c.1872G>T	NP_003877.2:p.Met624Ile
NM_139289.1:c.1845G>T	NP_647450.1:p.Met615Ile
NM_003886.3:c.1872G>T MANE Select	NP_003877.2:p.Met624Ile
NM_139289.2:c.1845G>T	NP_647450.1:p.Met615Ile