Canonical Allele Identifier: CA394485612

Gene: MEFV

Linked Data

• dbSNP Id: rs11466047
• gnomAD v3: 16-3243324-G-C
• gnomAD v4: 16-3243324-G-C
• MyVariant Identifiers: chr16:g.3293324G>C (hg19) ; chr16:g.3243324G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243324G>C , CM000678.2:g.3243324G>C	GRCh38
NC_000016.9:g.3293324G>C , CM000678.1:g.3293324G>C	GRCh37
NC_000016.8:g.3233325G>C	NCBI36
NG_007871.1:g.18304C>G , LRG_190:g.18304C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1284C>G
ENST00000219596.6:c.2163C>G MANE Select	ENSP00000219596.1:p.Phe721Leu
ENST00000219596.5:c.2163C>G	ENSP00000219596.1:p.Phe721Leu
ENST00000339854.8:c.1623C>G	ENSP00000339639.4:p.Phe541Leu
ENST00000536379.5:c.1530C>G	ENSP00000445079.1:p.Phe510Leu
ENST00000536980.5:c.*439C>G	ENSP00000444178.1:n.*439C>G
ENST00000537682.5:c.*439C>G	ENSP00000438611.1:n.*439C>G
ENST00000538326.5:c.*788C>G	ENSP00000437486.1:n.*788C>G
ENST00000539145.5:c.1084C>G	ENSP00000444471.1:n.1084C>G
ENST00000541159.5:c.1705C>G	ENSP00000438711.1:n.1705C>G
ENST00000542898.5:c.*439C>G	ENSP00000444615.1:n.*439C>G
ENST00000570511.5:c.1568C>G	ENSP00000458312.1:n.1568C>G
ENST00000572244.5:c.853C>G	ENSP00000461186.1:n.853C>G
ENST00000574583.5:c.935C>G	ENSP00000460269.1:n.935C>G
ENST00000576315.5:c.968C>G	ENSP00000460551.1:n.968C>G
ENST00000621655.1:c.1700C>G	ENSP00000481436.1:n.1700C>G
NM_000243.2:c.2163C>G , LRG_190t1:c.2163C>G	NP_000234.1:p.Phe721Leu
NM_001198536.1:c.*367C>G	NP_001185465.1:n.*367C>G
XM_017023236.2:c.2160C>G	XP_016878725.1:p.Phe720Leu
NM_000243.3:c.2163C>G MANE Select	NP_000234.1:p.Phe721Leu
NM_001198536.2:c.*367C>G	NP_001185465.2:n.*367C>G