Canonical Allele Identifier: CA10648339
Gene: SLX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 319124
ClinVar RCV Id: RCV000364522
dbSNP Id: rs75773027
gnomAD v2: 16-3631339-T-C
gnomAD v3: 16-3581338-T-C
gnomAD v4: 16-3581338-T-C
MyVariant Identifiers: chr16:g.3631339T>C (hg19) chr16:g.3581338T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3581338T>C , CM000678.2:g.3581338T>C GRCh38
NC_000016.9:g.3631339T>C , CM000678.1:g.3631339T>C GRCh37
NC_000016.8:g.3571340T>C NCBI36
NG_028123.1:g.35247A>G , LRG_503:g.35247A>G
NG_033123.1:g.1054A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000294008.4:c.*1004A>G MANE Select ENSP00000294008.3:n.*1004A>G
ENST00000294008.3:c.*1004A>G ENSP00000294008.3:n.*1004A>G
NM_032444.2:c.*1004A>G , LRG_503t1:c.*1004A>G NP_115820.2:n.*1004A>G
XM_011522715.1:c.*1004A>G XP_011521017.1:n.*1004A>G
NM_032444.3:c.*1004A>G NP_115820.2:n.*1004A>G
XM_011522715.3:c.*1004A>G XP_011521017.1:n.*1004A>G
XM_017023775.2:c.*1004A>G XP_016879264.1:n.*1004A>G
XM_024450471.1:c.*1004A>G XP_024306239.1:n.*1004A>G
NM_032444.4:c.*1004A>G MANE Select NP_115820.2:n.*1004A>G
Search 100 bp 5'
Search 100 bp 3'