Canonical Allele Identifier: CA309345205
Gene: MBOAT7 HGNC NCBI
ClinVar RCV:
RCV003004700
ClinVar Variation:
2373328
dbSNP:
774674992
gnomAD v3:
19:54174170 G / T
gnomAD v4:
chr19-54174170-G-T
Joint Max Group AF 0.00024304 (AMR)
Genomes Max Group AF 0.00002261 (AMR)
Exomes Max Group AF 0.00029327 (AMR)
MyVariant.info:
GRCh38 chr19:g.54174170G>T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.54174170G>T , CM000681.2:g.54174170G>T GRCh38
NC_000019.8:g.59369676G>T NCBI36
NG_033045.2:g.20706C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245615.6:c.1293C>A MANE Select ENSP00000245615.1:p.Phe431Leu
ENST00000245615.5:c.1293C>A ENSP00000245615.1:p.Phe431Leu
ENST00000338624.10:c.1074C>A ENSP00000344377.5:p.Phe358Leu
ENST00000431666.6:c.1074C>A ENSP00000410503.2:p.Phe358Leu
ENST00000437868.5:c.*953C>A ENSP00000404915.1:n.*953C>A
ENST00000449249.5:c.611C>A ENSP00000406794.1:n.611C>A
ENST00000494142.1:n.2288C>A
NM_001146056.2:c.1074C>A NP_001139528.1:p.Phe358Leu
NM_001146083.2:c.1074C>A NP_001139555.1:p.Phe358Leu
NM_024298.4:c.1293C>A NP_077274.3:p.Phe431Leu
XM_011527299.1:c.1293C>A XP_011525601.1:p.Phe431Leu
XM_011527300.1:c.1293C>A XP_011525602.1:p.Phe431Leu
XM_011527299.3:c.1293C>A XP_011525601.1:p.Phe431Leu
XM_011527300.2:c.1293C>A XP_011525602.1:p.Phe431Leu
NM_024298.5:c.1293C>A MANE Select NP_077274.3:p.Phe431Leu
NM_001146056.3:c.1074C>A NP_001139528.1:p.Phe358Leu
NM_001146083.3:c.1074C>A NP_001139555.1:p.Phe358Leu
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