Canonical Allele Identifier: CA4331414
Gene: STEAP4 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.88282927T>G
GRCh37 chr7:g.87912242T>G
Revel Score:
ENST00000380079 (MANE Select) 0.206
ENST00000414498 0.206
gnomAD v2:
7:87912242 T / G
gnomAD v3:
7:88282927 T / G
gnomAD v4:
chr7-88282927-T-G
Joint Max Group AF 0.00005278 (AFR)
Genomes Max Group AF 0.00006281 (AFR)
Exomes Max Group AF 0.00000989 (AFR)
ClinVar Allele:
2253281
ClinVar RCV:
RCV004122815
ClinVar Variation:
2266901
dbSNP:
774776093
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.88282927T>G , CM000669.2:g.88282927T>G GRCh38
NC_000007.13:g.87912242T>G , CM000669.1:g.87912242T>G GRCh37
NC_000007.12:g.87750178T>G NCBI36
NG_028313.1:g.28987A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380079.9:c.698A>C MANE Select ENSP00000369419.4:p.Asp233Ala
ENST00000301959.9:c.456+887A>C ENSP00000305545.5:n.456+887A>C
ENST00000380079.8:c.698A>C ENSP00000369419.4:p.Asp233Ala
ENST00000414498.1:c.698A>C ENSP00000394399.1:p.Asp233Ala
NM_001205315.1:c.698A>C NP_001192244.1:p.Asp233Ala
NM_001205316.1:c.456+887A>C NP_001192245.1:n.456+887A>C
NM_024636.3:c.698A>C NP_078912.2:p.Asp233Ala
NM_001205315.2:c.698A>C NP_001192244.1:p.Asp233Ala
NM_001205316.2:c.456+887A>C NP_001192245.1:n.456+887A>C
NM_024636.4:c.698A>C MANE Select NP_078912.2:p.Asp233Ala
Search 100 bp 5'
Search 100 bp 3'