Canonical Allele Identifier: CA413187663

Gene: AKAP4

Linked Data

• gnomAD v4: X-50192466-C-G
• MyVariant Identifiers: chrX:g.49957117C>G (hg19) ; chrX:g.50192466C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192466C>G , CM000685.2:g.50192466C>G	GRCh38
NC_000023.10:g.49957117C>G , CM000685.1:g.49957117C>G	GRCh37
NC_000023.9:g.49843857C>G	NCBI36
NG_012552.1:g.13548G>C
NG_012552.2:g.13548G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.2247G>C MANE Select	ENSP00000351327.2:p.Gln749His
ENST00000358526.6:c.2247G>C	ENSP00000351327.2:p.Gln749His
ENST00000376064.7:c.2220G>C	ENSP00000365232.3:p.Gln740His
ENST00000481402.5:n.2359G>C
NM_003886.2:c.2247G>C	NP_003877.2:p.Gln749His
NM_139289.1:c.2220G>C	NP_647450.1:p.Gln740His
NM_003886.3:c.2247G>C MANE Select	NP_003877.2:p.Gln749His
NM_139289.2:c.2220G>C	NP_647450.1:p.Gln740His