Canonical Allele Identifier: CA413187654

Gene: AKAP4

Linked Data

• dbSNP Id: rs370785257
• gnomAD v3: X-50192463-G-C
• gnomAD v4: X-50192463-G-C
• MyVariant Identifiers: chrX:g.49957114G>C (hg19) ; chrX:g.50192463G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192463G>C , CM000685.2:g.50192463G>C	GRCh38
NC_000023.10:g.49957114G>C , CM000685.1:g.49957114G>C	GRCh37
NC_000023.9:g.49843854G>C	NCBI36
NG_012552.1:g.13551C>G
NG_012552.2:g.13551C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.2250C>G MANE Select	ENSP00000351327.2:p.Asn750Lys
ENST00000358526.6:c.2250C>G	ENSP00000351327.2:p.Asn750Lys
ENST00000376064.7:c.2223C>G	ENSP00000365232.3:p.Asn741Lys
ENST00000481402.5:n.2362C>G
NM_003886.2:c.2250C>G	NP_003877.2:p.Asn750Lys
NM_139289.1:c.2223C>G	NP_647450.1:p.Asn741Lys
NM_003886.3:c.2250C>G MANE Select	NP_003877.2:p.Asn750Lys
NM_139289.2:c.2223C>G	NP_647450.1:p.Asn741Lys