Canonical Allele Identifier: CA7865419
Gene: SLX4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.3583091G>T
GRCh37 chr16:g.3633092G>T
gnomAD v2:
16:3633092 G / T
gnomAD v3:
16:3583091 G / T
gnomAD v4:
chr16-3583091-G-T
Joint Max Group AF 0.0010064 (EAS)
Genomes Max Group AF 0.00037995 (EAS)
Exomes Max Group AF 0.00102521 (EAS)
ClinVar RCV:
RCV000463339
RCV001118088
ClinVar Variation:
407918
dbSNP:
754209356
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3583091G>T , CM000678.2:g.3583091G>T GRCh38
NC_000016.9:g.3633092G>T , CM000678.1:g.3633092G>T GRCh37
NC_000016.8:g.3573093G>T NCBI36
NG_028123.1:g.33494C>A , LRG_503:g.33494C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294008.4:c.5153+6C>A MANE Select ENSP00000294008.3:n.5153+6C>A
ENST00000294008.3:c.5153+6C>A ENSP00000294008.3:n.5153+6C>A
NM_032444.2:c.5153+6C>A , LRG_503t1:c.5153+6C>A NP_115820.2:n.5153+6C>A
XM_011522715.1:c.5150+6C>A XP_011521017.1:n.5150+6C>A
NM_032444.3:c.5153+6C>A NP_115820.2:n.5153+6C>A
XM_011522715.3:c.5150+6C>A XP_011521017.1:n.5150+6C>A
XM_017023775.2:c.4331+6C>A XP_016879264.1:n.4331+6C>A
XM_024450471.1:c.5153+6C>A XP_024306239.1:n.5153+6C>A
NM_032444.4:c.5153+6C>A MANE Select NP_115820.2:n.5153+6C>A
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