Canonical Allele Identifier: CA15095880
Gene: CD58 HGNC NCBI
NAP1L4P1 HGNC NCBI
COSMIC:
COSN19618842 (not active)
MyVariant.info:
GRCh38 chr1:g.116533925G>T
GRCh37 chr1:g.117076547G>T
gnomAD v2:
1:117076547 G / T
gnomAD v3:
1:116533925 G / T
gnomAD v4:
chr1-116533925-G-T
Joint Max Group AF 0.56958245 (EAS)
Genomes Max Group AF 0.55469049 (EAS)
Exomes Max Group AF 0.56969462 (EAS)
dbSNP:
1016140
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.116533925G>T , CM000663.2:g.116533925G>T GRCh38
NC_000001.10:g.117076547G>T , CM000663.1:g.117076547G>T GRCh37
NC_000001.9:g.116878070G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369489.10:c.628+2040C>A (CD58) MANE Select ENSP00000358501.5:n.628+2040C>A
ENST00000319092.5:n.168C>A (NAP1L4P1)
ENST00000369487.3:c.628+2040C>A (CD58) ENSP00000358499.3:n.628+2040C>A
ENST00000369489.9:c.628+2040C>A (CD58) ENSP00000358501.5:n.628+2040C>A
ENST00000457047.6:c.628+2040C>A (CD58) ENSP00000409080.2:n.628+2040C>A
ENST00000464088.5:c.628+2040C>A (CD58) ENSP00000432773.1:n.628+2040C>A
ENST00000526981.1:c.280+10386C>A (CD58) ENSP00000433648.1:n.280+10386C>A
NM_001144822.1:c.628+2040C>A (CD58) NP_001138294.1:n.628+2040C>A
NM_001779.2:c.628+2040C>A (CD58) NP_001770.1:n.628+2040C>A
NR_026665.1:n.749+2040C>A (CD58)
XM_017002869.2:c.628+2040C>A (CD58) XP_016858358.1:n.628+2040C>A
NM_001779.3:c.628+2040C>A (CD58) MANE Select NP_001770.1:n.628+2040C>A
NR_026665.2:n.682+2040C>A (CD58)
NM_001144822.2:c.628+2040C>A (CD58) NP_001138294.1:n.628+2040C>A
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