Canonical Allele Identifier: CA2807690
Gene: FAM53A HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.1641463G>A
GRCh37 chr4:g.1643190G>A
Revel Score:
ENST00000308132 (MANE Select) 0.042
ENST00000461064 0.042
ENST00000472884 0.042
gnomAD v2:
4:1643190 G / A
gnomAD v3:
4:1641463 G / A
gnomAD v4:
chr4-1641463-G-A
Joint Max Group AF 0.00009193 (SAS)
Exomes Max Group AF 0.00008885 (SAS)
ClinVar RCV:
RCV004150583
ClinVar Variation:
2302741
dbSNP:
527699371
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1641463G>A , CM000666.2:g.1641463G>A GRCh38
NC_000004.11:g.1643190G>A , CM000666.1:g.1643190G>A GRCh37
NC_000004.10:g.1613006G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000308132.11:c.1027C>T MANE Select ENSP00000310057.6:p.Leu343Phe
ENST00000308132.10:c.1027C>T ENSP00000310057.6:p.Leu343Phe
ENST00000461064.5:c.1027C>T ENSP00000418243.1:p.Leu343Phe
ENST00000472884.6:c.1027C>T ENSP00000426260.1:p.Leu343Phe
ENST00000489029.1:c.431+13515C>T
ENST00000489363.5:c.*98C>T ENSP00000419044.1:n.*98C>T
NM_001013622.3:c.1027C>T NP_001013644.1:p.Leu343Phe
NM_001174070.2:c.1027C>T NP_001167541.1:p.Leu343Phe
NM_001297435.1:c.*98C>T NP_001284364.1:n.*98C>T
XM_005247948.2:c.1027C>T XP_005248005.1:p.Leu343Phe
XM_011513402.1:c.1027C>T XP_011511704.1:p.Leu343Phe
XM_011513403.1:c.1036+2726C>T XP_011511705.1:n.1036+2726C>T
XM_011513404.1:c.882+13515C>T XP_011511706.1:n.882+13515C>T
XM_011513405.1:c.882+13515C>T XP_011511707.1:n.882+13515C>T
XR_924913.1:n.1922C>T
XM_005247948.3:c.1027C>T XP_005248005.1:p.Leu343Phe
XM_011513402.2:c.1027C>T XP_011511704.1:p.Leu343Phe
XM_011513404.2:c.882+13515C>T XP_011511706.1:n.882+13515C>T
XM_017007802.1:c.*98C>T XP_016863291.1:n.*98C>T
XM_024453912.1:c.1036+2726C>T XP_024309680.1:n.1036+2726C>T
XR_924913.3:n.1922C>T
NM_001174070.3:c.1027C>T MANE Select NP_001167541.1:p.Leu343Phe
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