Canonical Allele Identifier: CA4331498
Gene: STEAP4 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.88284046C>T
GRCh37 chr7:g.87913361C>T
Revel Score:
ENST00000380079 (MANE Select) 0.109
ENST00000301959 0.109
ENST00000414498 0.109
gnomAD v2:
7:87913361 C / T
gnomAD v3:
7:88284046 C / T
gnomAD v4:
chr7-88284046-C-T
Joint Max Group AF 0.94918186 (AFR)
Genomes Max Group AF 0.94349965 (AFR)
Exomes Max Group AF 0.95082827 (AFR)
dbSNP:
1981529
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.88284046C>T , CM000669.2:g.88284046C>T GRCh38
NC_000007.13:g.87913361C>T , CM000669.1:g.87913361C>T GRCh37
NC_000007.12:g.87751297C>T NCBI36
NG_028313.1:g.27868G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380079.9:c.224G>A MANE Select ENSP00000369419.4:p.Gly75Asp
ENST00000301959.9:c.224G>A ENSP00000305545.5:p.Gly75Asp
ENST00000380079.8:c.224G>A ENSP00000369419.4:p.Gly75Asp
ENST00000414498.1:c.224G>A ENSP00000394399.1:p.Gly75Asp
NM_001205315.1:c.224G>A NP_001192244.1:p.Gly75Asp
NM_001205316.1:c.224G>A NP_001192245.1:p.Gly75Asp
NM_024636.3:c.224G>A NP_078912.2:p.Gly75Asp
NM_001205315.2:c.224G>A NP_001192244.1:p.Gly75Asp
NM_001205316.2:c.224G>A NP_001192245.1:p.Gly75Asp
NM_024636.4:c.224G>A MANE Select NP_078912.2:p.Gly75Asp
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