Canonical Allele Identifier: CA7865700
Gene: SLX4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.3589377T>A
GRCh37 chr16:g.3639378T>A
Revel Score:
ENST00000294008 (MANE Select) 0.078
gnomAD v2:
16:3639378 T / A
gnomAD v3:
16:3589377 T / A
gnomAD v4:
chr16-3589377-T-A
Joint Max Group AF 0.00115855 (NFE)
Genomes Max Group AF 0.00087782 (NFE)
Exomes Max Group AF 0.00116545 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3589377T>A , CM000678.2:g.3589377T>A GRCh38
NC_000016.9:g.3639378T>A , CM000678.1:g.3639378T>A GRCh37
NC_000016.8:g.3579379T>A NCBI36
NG_028123.1:g.27208A>T , LRG_503:g.27208A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000294008.4:c.4261A>T MANE Select ENSP00000294008.3:p.Ile1421Phe
ENST00000294008.3:c.4261A>T ENSP00000294008.3:p.Ile1421Phe
NM_032444.2:c.4261A>T , LRG_503t1:c.4261A>T NP_115820.2:p.Ile1421Phe
XM_011522715.1:c.4261A>T XP_011521017.1:p.Ile1421Phe
NM_032444.3:c.4261A>T NP_115820.2:p.Ile1421Phe
XM_011522715.3:c.4261A>T XP_011521017.1:p.Ile1421Phe
XM_017023775.2:c.3439A>T XP_016879264.1:p.Ile1147Phe
XM_024450471.1:c.4261A>T XP_024306239.1:p.Ile1421Phe
NM_032444.4:c.4261A>T MANE Select NP_115820.2:p.Ile1421Phe
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