Canonical Allele Identifier: CA7866923
Gene: SLX4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.3608734T>C
GRCh37 chr16:g.3658735T>C
gnomAD v2:
16:3658735 T / C
gnomAD v3:
16:3608734 T / C
gnomAD v4:
chr16-3608734-T-C
Joint Max Group AF 0.00008997 (AMR)
Genomes Max Group AF 0.00017007 (AMR)
Exomes Max Group AF 0.00005972 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3608734T>C , CM000678.2:g.3608734T>C GRCh38
NC_000016.9:g.3658735T>C , CM000678.1:g.3658735T>C GRCh37
NC_000016.8:g.3598736T>C NCBI36
NG_028123.1:g.7851A>G , LRG_503:g.7851A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697859.1:n.853A>G
ENST00000294008.4:c.231A>G MANE Select ENSP00000294008.3:p.Gln77=
ENST00000294008.3:c.231A>G ENSP00000294008.3:p.Gln77=
ENST00000466154.5:n.526A>G
ENST00000486524.1:n.859A>G
NM_032444.2:c.231A>G , LRG_503t1:c.231A>G NP_115820.2:p.Gln77=
XM_011522715.1:c.231A>G XP_011521017.1:p.Gln77=
NM_032444.3:c.231A>G NP_115820.2:p.Gln77=
XM_011522715.3:c.231A>G XP_011521017.1:p.Gln77=
XM_024450471.1:c.231A>G XP_024306239.1:p.Gln77=
NM_032444.4:c.231A>G MANE Select NP_115820.2:p.Gln77=
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