Canonical Allele Identifier: CA516679787

Gene: AKAP4

Linked Data

• dbSNP Id: rs1426524351
• gnomAD v2: X-49957713-G-A
• gnomAD v4: X-50193062-G-A
• MyVariant Identifiers: chrX:g.49957713G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50193062G>A , CM000685.2:g.50193062G>A	GRCh38
NC_000023.10:g.49957713G>A , CM000685.1:g.49957713G>A	GRCh37
NC_000023.9:g.49844453G>A	NCBI36
NG_012552.1:g.12952C>T
NG_012552.2:g.12952C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.1651C>T MANE Select	ENSP00000351327.2:p.Leu551=
ENST00000358526.6:c.1651C>T	ENSP00000351327.2:p.Leu551=
ENST00000376064.7:c.1624C>T	ENSP00000365232.3:p.Leu542=
ENST00000448865.5:c.542-40C>T	ENSP00000402403.1:n.542-40C>T
ENST00000481402.5:n.1763C>T
NM_003886.2:c.1651C>T	NP_003877.2:p.Leu551=
NM_139289.1:c.1624C>T	NP_647450.1:p.Leu542=
NM_003886.3:c.1651C>T MANE Select	NP_003877.2:p.Leu551=
NM_139289.2:c.1624C>T	NP_647450.1:p.Leu542=