Canonical Allele Identifier: CA7865933
Gene: SLX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 262047
ClinVar RCV Id: RCV000245084 RCV000323962 RCV000515613 RCV001527973
dbSNP Id: rs714181
ExAC: 16:3640274 G / A
gnomAD v2: 16-3640274-G-A
gnomAD v3: 16-3590273-G-A
gnomAD v4: 16-3590273-G-A
MyVariant Identifiers: chr16:g.3640274G>A (hg19) chr16:g.3590273G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3590273G>A , CM000678.2:g.3590273G>A GRCh38
NC_000016.9:g.3640274G>A , CM000678.1:g.3640274G>A GRCh37
NC_000016.8:g.3580275G>A NCBI36
NG_028123.1:g.26312C>T , LRG_503:g.26312C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000294008.4:c.3365C>T MANE Select ENSP00000294008.3:p.Pro1122Leu
ENST00000294008.3:c.3365C>T ENSP00000294008.3:p.Pro1122Leu
NM_032444.2:c.3365C>T , LRG_503t1:c.3365C>T NP_115820.2:p.Pro1122Leu
XM_011522715.1:c.3365C>T XP_011521017.1:p.Pro1122Leu
NM_032444.3:c.3365C>T NP_115820.2:p.Pro1122Leu
XM_011522715.3:c.3365C>T XP_011521017.1:p.Pro1122Leu
XM_017023775.2:c.2543C>T XP_016879264.1:p.Pro848Leu
XM_024450471.1:c.3365C>T XP_024306239.1:p.Pro1122Leu
NM_032444.4:c.3365C>T MANE Select NP_115820.2:p.Pro1122Leu
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