Canonical Allele Identifier: CA413188457

Gene: AKAP4

Linked Data

• dbSNP Id: rs1302394343
• gnomAD v4: X-50192656-G-C
• MyVariant Identifiers: chrX:g.49957307G>C (hg19) ; chrX:g.50192656G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192656G>C , CM000685.2:g.50192656G>C	GRCh38
NC_000023.10:g.49957307G>C , CM000685.1:g.49957307G>C	GRCh37
NC_000023.9:g.49844047G>C	NCBI36
NG_012552.1:g.13358C>G
NG_012552.2:g.13358C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.2057C>G MANE Select	ENSP00000351327.2:p.Thr686Ser
ENST00000358526.6:c.2057C>G	ENSP00000351327.2:p.Thr686Ser
ENST00000376064.7:c.2030C>G	ENSP00000365232.3:p.Thr677Ser
ENST00000481402.5:n.2169C>G
NM_003886.2:c.2057C>G	NP_003877.2:p.Thr686Ser
NM_139289.1:c.2030C>G	NP_647450.1:p.Thr677Ser
NM_003886.3:c.2057C>G MANE Select	NP_003877.2:p.Thr686Ser
NM_139289.2:c.2030C>G	NP_647450.1:p.Thr677Ser