Canonical Allele Identifier: CA9787959
Gene: CD93 HGNC NCBI
COSMIC:
COSM3758486 (not active)
MyVariant.info:
GRCh38 chr20:g.23084572G>A
GRCh37 chr20:g.23065209G>A
Revel Score:
ENST00000246006 (MANE Select) 0.138
gnomAD v2:
20:23065209 G / A
gnomAD v3:
20:23084572 G / A
gnomAD v4:
chr20-23084572-G-A
Joint Max Group AF 0.65971563 (MID)
Genomes Max Group AF 0.64282984 (SAS)
Exomes Max Group AF 0.6592896 (MID)
ClinVar RCV:
RCV003490429
ClinVar Variation:
2688535
dbSNP:
3746731
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23084572G>A , CM000682.2:g.23084572G>A GRCh38
NC_000020.10:g.23065209G>A , CM000682.1:g.23065209G>A GRCh37
NC_000020.9:g.23013209G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000246006.5:c.1621C>T MANE Select ENSP00000246006.4:p.Pro541Ser
ENST00000246006.4:c.1621C>T ENSP00000246006.4:p.Pro541Ser
NM_012072.3:c.1621C>T NP_036204.2:p.Pro541Ser
XR_001754208.2:n.2259C>T
NM_012072.4:c.1621C>T MANE Select NP_036204.2:p.Pro541Ser
Search 100 bp 5'
Search 100 bp 3'