Canonical Allele Identifier: CA150787
Gene: FAM111B HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.59125980G>A
GRCh37 chr11:g.58893453G>A
Revel Score:
ENST00000411426 0.787
ENST00000529618 0.787
ENST00000343597 (MANE Select) 0.787
ClinVar RCV:
RCV000106319
ClinVar Variation:
120219
dbSNP:
587777238
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.59125980G>A , CM000673.2:g.59125980G>A GRCh38
NC_000011.9:g.58893453G>A , CM000673.1:g.58893453G>A GRCh37
NC_000011.8:g.58650029G>A NCBI36
NG_034129.1:g.23796G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343597.4:c.1883G>A MANE Select ENSP00000341565.3:p.Ser628Asn
ENST00000343597.3:c.1883G>A ENSP00000341565.3:p.Ser628Asn
ENST00000411426.1:c.1793G>A ENSP00000393855.1:p.Ser598Asn
ENST00000529618.5:c.1793G>A ENSP00000432875.1:p.Ser598Asn
ENST00000620384.1:c.1883G>A ENSP00000483456.1:p.Ser628Asn
NM_001142703.1:c.1793G>A NP_001136175.1:p.Ser598Asn
NM_001142704.1:c.1793G>A NP_001136176.1:p.Ser598Asn
NM_198947.3:c.1883G>A NP_945185.1:p.Ser628Asn
NM_198947.4:c.1883G>A MANE Select NP_945185.1:p.Ser628Asn
NM_001142703.2:c.1793G>A NP_001136175.1:p.Ser598Asn
NM_001142704.2:c.1793G>A NP_001136176.1:p.Ser598Asn
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