Canonical Allele Identifier: CA394485105

Gene: MEFV

Linked Data

• dbSNP Id: rs104895216
• gnomAD v2: 16-3293259-A-G
• gnomAD v4: 16-3243259-A-G
• MyVariant Identifiers: chr16:g.3293259A>G (hg19) ; chr16:g.3243259A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243259A>G , CM000678.2:g.3243259A>G	GRCh38
NC_000016.9:g.3293259A>G , CM000678.1:g.3293259A>G	GRCh37
NC_000016.8:g.3233260A>G	NCBI36
NG_007871.1:g.18369T>C , LRG_190:g.18369T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1349T>C
ENST00000219596.6:c.2228T>C MANE Select	ENSP00000219596.1:p.Phe743Ser
ENST00000219596.5:c.2228T>C	ENSP00000219596.1:p.Phe743Ser
ENST00000339854.8:c.1688T>C	ENSP00000339639.4:p.Phe563Ser
ENST00000536379.5:c.1595T>C	ENSP00000445079.1:p.Phe532Ser
ENST00000536980.5:c.*504T>C	ENSP00000444178.1:n.*504T>C
ENST00000537682.5:c.*504T>C	ENSP00000438611.1:n.*504T>C
ENST00000538326.5:c.*853T>C	ENSP00000437486.1:n.*853T>C
ENST00000539145.5:c.1149T>C	ENSP00000444471.1:n.1149T>C
ENST00000541159.5:c.1770T>C	ENSP00000438711.1:n.1770T>C
ENST00000542898.5:c.*504T>C	ENSP00000444615.1:n.*504T>C
ENST00000570511.5:c.1633T>C	ENSP00000458312.1:n.1633T>C
ENST00000572244.5:c.918T>C	ENSP00000461186.1:n.918T>C
ENST00000574583.5:c.1000T>C	ENSP00000460269.1:n.1000T>C
ENST00000576315.5:c.1033T>C	ENSP00000460551.1:n.1033T>C
ENST00000621655.1:c.1765T>C	ENSP00000481436.1:n.1765T>C
NM_000243.2:c.2228T>C , LRG_190t1:c.2228T>C	NP_000234.1:p.Phe743Ser
NM_001198536.1:c.*432T>C	NP_001185465.1:n.*432T>C
XM_017023236.2:c.2225T>C	XP_016878725.1:p.Phe742Ser
NM_000243.3:c.2228T>C MANE Select	NP_000234.1:p.Phe743Ser
NM_001198536.2:c.*432T>C	NP_001185465.2:n.*432T>C