Canonical Allele Identifier: CA413189919

Gene: AKAP4

Linked Data

• dbSNP Id: rs1557203887
• gnomAD v2: X-49957638-C-A
• gnomAD v4: X-50192987-C-A
• MyVariant Identifiers: chrX:g.49957638C>A (hg19) ; chrX:g.50192987C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192987C>A , CM000685.2:g.50192987C>A	GRCh38
NC_000023.10:g.49957638C>A , CM000685.1:g.49957638C>A	GRCh37
NC_000023.9:g.49844378C>A	NCBI36
NG_012552.1:g.13027G>T
NG_012552.2:g.13027G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.1726G>T MANE Select	ENSP00000351327.2:p.Gly576Cys
ENST00000358526.6:c.1726G>T	ENSP00000351327.2:p.Gly576Cys
ENST00000376064.7:c.1699G>T	ENSP00000365232.3:p.Gly567Cys
ENST00000448865.5:c.577G>T	ENSP00000402403.1:p.Gly193Cys
ENST00000481402.5:n.1838G>T
NM_003886.2:c.1726G>T	NP_003877.2:p.Gly576Cys
NM_139289.1:c.1699G>T	NP_647450.1:p.Gly567Cys
NM_003886.3:c.1726G>T MANE Select	NP_003877.2:p.Gly576Cys
NM_139289.2:c.1699G>T	NP_647450.1:p.Gly567Cys