Canonical Allele Identifier: CA413188920

Gene: AKAP4

Linked Data

• dbSNP Id: rs1935129519
• gnomAD v4: X-50192765-C-T
• MyVariant Identifiers: chrX:g.49957416C>T (hg19) ; chrX:g.50192765C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192765C>T , CM000685.2:g.50192765C>T	GRCh38
NC_000023.10:g.49957416C>T , CM000685.1:g.49957416C>T	GRCh37
NC_000023.9:g.49844156C>T	NCBI36
NG_012552.1:g.13249G>A
NG_012552.2:g.13249G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.1948G>A MANE Select	ENSP00000351327.2:p.Glu650Lys
ENST00000358526.6:c.1948G>A	ENSP00000351327.2:p.Glu650Lys
ENST00000376064.7:c.1921G>A	ENSP00000365232.3:p.Glu641Lys
ENST00000481402.5:n.2060G>A
NM_003886.2:c.1948G>A	NP_003877.2:p.Glu650Lys
NM_139289.1:c.1921G>A	NP_647450.1:p.Glu641Lys
NM_003886.3:c.1948G>A MANE Select	NP_003877.2:p.Glu650Lys
NM_139289.2:c.1921G>A	NP_647450.1:p.Glu641Lys