Canonical Allele Identifier: CA394485917

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243377-C-G
• MyVariant Identifiers: chr16:g.3293377C>G (hg19) ; chr16:g.3243377C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243377C>G , CM000678.2:g.3243377C>G	GRCh38
NC_000016.9:g.3293377C>G , CM000678.1:g.3293377C>G	GRCh37
NC_000016.8:g.3233378C>G	NCBI36
NG_007871.1:g.18251G>C , LRG_190:g.18251G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1231G>C
ENST00000219596.6:c.2110G>C MANE Select	ENSP00000219596.1:p.Val704Leu
ENST00000219596.5:c.2110G>C	ENSP00000219596.1:p.Val704Leu
ENST00000339854.8:c.1570G>C	ENSP00000339639.4:p.Val524Leu
ENST00000536379.5:c.1477G>C	ENSP00000445079.1:p.Val493Leu
ENST00000536980.5:c.*386G>C	ENSP00000444178.1:n.*386G>C
ENST00000537682.5:c.*386G>C	ENSP00000438611.1:n.*386G>C
ENST00000538326.5:c.*735G>C	ENSP00000437486.1:n.*735G>C
ENST00000539145.5:c.1031G>C	ENSP00000444471.1:n.1031G>C
ENST00000541159.5:c.1652G>C	ENSP00000438711.1:n.1652G>C
ENST00000542898.5:c.*386G>C	ENSP00000444615.1:n.*386G>C
ENST00000570511.5:c.1515G>C	ENSP00000458312.1:n.1515G>C
ENST00000572244.5:c.800G>C	ENSP00000461186.1:n.800G>C
ENST00000574583.5:c.882G>C	ENSP00000460269.1:n.882G>C
ENST00000576315.5:c.915G>C	ENSP00000460551.1:n.915G>C
ENST00000621655.1:c.1647G>C	ENSP00000481436.1:n.1647G>C
NM_000243.2:c.2110G>C , LRG_190t1:c.2110G>C	NP_000234.1:p.Val704Leu
NM_001198536.1:c.*314G>C	NP_001185465.1:n.*314G>C
XM_017023236.2:c.2107G>C	XP_016878725.1:p.Val703Leu
NM_000243.3:c.2110G>C MANE Select	NP_000234.1:p.Val704Leu
NM_001198536.2:c.*314G>C	NP_001185465.2:n.*314G>C