Canonical Allele Identifier: CA10414143
Gene: AKAP4 HGNC NCBI

Linked Data

dbSNP Id: rs12011833
ExAC: X:49957216 G / A
gnomAD v2: X-49957216-G-A
gnomAD v3: X-50192565-G-A
gnomAD v4: X-50192565-G-A
MyVariant Identifiers: chrX:g.49957216G>A (hg19) chrX:g.50192565G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192565G>A , CM000685.2:g.50192565G>A GRCh38
NC_000023.10:g.49957216G>A , CM000685.1:g.49957216G>A GRCh37
NC_000023.9:g.49843956G>A NCBI36
NG_012552.1:g.13449C>T
NG_012552.2:g.13449C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2148C>T MANE Select ENSP00000351327.2:p.Asn716=
ENST00000358526.6:c.2148C>T ENSP00000351327.2:p.Asn716=
ENST00000376064.7:c.2121C>T ENSP00000365232.3:p.Asn707=
ENST00000481402.5:n.2260C>T
NM_003886.2:c.2148C>T NP_003877.2:p.Asn716=
NM_139289.1:c.2121C>T NP_647450.1:p.Asn707=
NM_003886.3:c.2148C>T MANE Select NP_003877.2:p.Asn716=
NM_139289.2:c.2121C>T NP_647450.1:p.Asn707=
Search 100 bp 5'
Search 100 bp 3'