Canonical Allele Identifier: CA394484315

Gene: MEFV

Linked Data

• dbSNP Id: rs1567231225
• gnomAD v3: 16-3243166-G-A
• gnomAD v4: 16-3243166-G-A
• MyVariant Identifiers: chr16:g.3293166G>A (hg19) ; chr16:g.3243166G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243166G>A , CM000678.2:g.3243166G>A	GRCh38
NC_000016.9:g.3293166G>A , CM000678.1:g.3293166G>A	GRCh37
NC_000016.8:g.3233167G>A	NCBI36
NG_007871.1:g.18462C>T , LRG_190:g.18462C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1442C>T
ENST00000219596.6:c.2321C>T MANE Select	ENSP00000219596.1:p.Pro774Leu
ENST00000219596.5:c.2321C>T	ENSP00000219596.1:p.Pro774Leu
ENST00000339854.8:c.1781C>T	ENSP00000339639.4:p.Pro594Leu
ENST00000536379.5:c.1688C>T	ENSP00000445079.1:p.Pro563Leu
ENST00000536980.5:c.*597C>T	ENSP00000444178.1:n.*597C>T
ENST00000537682.5:c.*597C>T	ENSP00000438611.1:n.*597C>T
ENST00000538326.5:c.*946C>T	ENSP00000437486.1:n.*946C>T
ENST00000539145.5:c.1242C>T	ENSP00000444471.1:n.1242C>T
ENST00000541159.5:c.1863C>T	ENSP00000438711.1:n.1863C>T
ENST00000542898.5:c.*597C>T	ENSP00000444615.1:n.*597C>T
ENST00000570511.5:c.1726C>T	ENSP00000458312.1:n.1726C>T
ENST00000572244.5:c.1011C>T	ENSP00000461186.1:n.1011C>T
ENST00000574583.5:c.1093C>T	ENSP00000460269.1:n.1093C>T
ENST00000576315.5:c.1126C>T	ENSP00000460551.1:n.1126C>T
ENST00000621655.1:c.1858C>T	ENSP00000481436.1:n.1858C>T
NM_000243.2:c.2321C>T , LRG_190t1:c.2321C>T	NP_000234.1:p.Pro774Leu
NM_001198536.1:c.*525C>T	NP_001185465.1:n.*525C>T
XM_017023236.2:c.2318C>T	XP_016878725.1:p.Pro773Leu
NM_000243.3:c.2321C>T MANE Select	NP_000234.1:p.Pro774Leu
NM_001198536.2:c.*525C>T	NP_001185465.2:n.*525C>T