Canonical Allele Identifier: CA2631357434
Gene: MEFV HGNC NCBI

Linked Data

gnomAD v4: 16-3256630-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3256630G>T , CM000678.2:g.3256630G>T GRCh38
NC_000016.9:g.3306630G>T , CM000678.1:g.3306630G>T GRCh37
NC_000016.8:g.3246631G>T NCBI36
NG_007871.1:g.4998C>A , LRG_190:g.4998C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219596.6:c.-43C>A MANE Select ENSP00000219596.1:n.-43C>A
XM_017023236.2:c.-43C>A XP_016878725.1:n.-43C>A
XR_001751903.1:n.147C>A
NM_000243.3:c.-43C>A MANE Select NP_000234.1:n.-43C>A
NM_001198536.2:c.-43C>A NP_001185465.2:n.-43C>A
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