Canonical Allele Identifier: CA620436746
Gene: MEFV HGNC NCBI

Linked Data

dbSNP Id: rs1225545142
gnomAD v2: 16-3306630-G-A
gnomAD v4: 16-3256630-G-A
MyVariant Identifiers: chr16:g.3306630G>A (hg19) chr16:g.3256630G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

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