Canonical Allele Identifier: CA412154143
Gene: KLHDC7B HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.50549577G>A
GRCh37 chr22:g.50988006G>A
Revel Score:
ENST00000395676 0.265
gnomAD v2:
22:50988006 G / A
gnomAD v3:
22:50549577 G / A
gnomAD v4:
chr22-50549577-G-A
Joint Max Group AF 6.9e-7 (NFE)
Exomes Max Group AF 3.1e-7 (NFE)
ClinVar RCV:
RCV004101853
ClinVar Variation:
2243656
dbSNP:
749185319
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50549577G>A , CM000684.2:g.50549577G>A GRCh38
NC_000022.10:g.50988006G>A , CM000684.1:g.50988006G>A GRCh37
NC_000022.9:g.49334872G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395676.4:c.1411G>A ENSP00000379034.2:p.Asp471Asn
ENST00000648057.3:c.3334G>A MANE Select ENSP00000497256.1:p.Asp1112Asn
ENST00000395676.3:c.1411G>A ENSP00000379034.2:p.Asp471Asn
NM_138433.3:c.1411G>A NP_612442.2:p.Asp471Asn
NM_138433.4:c.3334G>A NP_612442.3:p.Asp1112Asn
NM_138433.5:c.3334G>A MANE Select NP_612442.3:p.Asp1112Asn
Search 100 bp 5'
Search 100 bp 3'