Canonical Allele Identifier: CA10643574
Gene: SLX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 319133
ClinVar RCV Id: RCV000387399
dbSNP Id: rs546917026
gnomAD v2: 16-3631691-T-C
gnomAD v3: 16-3581690-T-C
gnomAD v4: 16-3581690-T-C
MyVariant Identifiers: chr16:g.3631691T>C (hg19) chr16:g.3581690T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3581690T>C , CM000678.2:g.3581690T>C GRCh38
NC_000016.9:g.3631691T>C , CM000678.1:g.3631691T>C GRCh37
NC_000016.8:g.3571692T>C NCBI36
NG_028123.1:g.34895A>G , LRG_503:g.34895A>G
NG_033123.1:g.702A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000294008.4:c.*652A>G MANE Select ENSP00000294008.3:n.*652A>G
ENST00000294008.3:c.*652A>G ENSP00000294008.3:n.*652A>G
NM_032444.2:c.*652A>G , LRG_503t1:c.*652A>G NP_115820.2:n.*652A>G
XM_011522715.1:c.*652A>G XP_011521017.1:n.*652A>G
NM_032444.3:c.*652A>G NP_115820.2:n.*652A>G
XM_011522715.3:c.*652A>G XP_011521017.1:n.*652A>G
XM_017023775.2:c.*652A>G XP_016879264.1:n.*652A>G
XM_024450471.1:c.*652A>G XP_024306239.1:n.*652A>G
NM_032444.4:c.*652A>G MANE Select NP_115820.2:n.*652A>G
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