Canonical Allele Identifier: CA10577516

Gene: MEFV

Linked Data

• ClinVar Variation Id: 234449
• ClinVar RCV Id: RCV000214222 ; RCV001833229
• dbSNP Id: rs876661026
• gnomAD v3: 16-3243260-A-G
• gnomAD v4: 16-3243260-A-G
• MyVariant Identifiers: chr16:g.3293260A>G (hg19) ; chr16:g.3243260A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243260A>G , CM000678.2:g.3243260A>G	GRCh38
NC_000016.9:g.3293260A>G , CM000678.1:g.3293260A>G	GRCh37
NC_000016.8:g.3233261A>G	NCBI36
NG_007871.1:g.18368T>C , LRG_190:g.18368T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1348T>C
ENST00000219596.6:c.2227T>C MANE Select	ENSP00000219596.1:p.Phe743Leu
ENST00000219596.5:c.2227T>C	ENSP00000219596.1:p.Phe743Leu
ENST00000339854.8:c.1687T>C	ENSP00000339639.4:p.Phe563Leu
ENST00000536379.5:c.1594T>C	ENSP00000445079.1:p.Phe532Leu
ENST00000536980.5:c.*503T>C	ENSP00000444178.1:n.*503T>C
ENST00000537682.5:c.*503T>C	ENSP00000438611.1:n.*503T>C
ENST00000538326.5:c.*852T>C	ENSP00000437486.1:n.*852T>C
ENST00000539145.5:c.1148T>C	ENSP00000444471.1:n.1148T>C
ENST00000541159.5:c.1769T>C	ENSP00000438711.1:n.1769T>C
ENST00000542898.5:c.*503T>C	ENSP00000444615.1:n.*503T>C
ENST00000570511.5:c.1632T>C	ENSP00000458312.1:n.1632T>C
ENST00000572244.5:c.917T>C	ENSP00000461186.1:n.917T>C
ENST00000574583.5:c.999T>C	ENSP00000460269.1:n.999T>C
ENST00000576315.5:c.1032T>C	ENSP00000460551.1:n.1032T>C
ENST00000621655.1:c.1764T>C	ENSP00000481436.1:n.1764T>C
NM_000243.2:c.2227T>C , LRG_190t1:c.2227T>C	NP_000234.1:p.Phe743Leu
NM_001198536.1:c.*431T>C	NP_001185465.1:n.*431T>C
XM_017023236.2:c.2224T>C	XP_016878725.1:p.Phe742Leu
NM_000243.3:c.2227T>C MANE Select	NP_000234.1:p.Phe743Leu
NM_001198536.2:c.*431T>C	NP_001185465.2:n.*431T>C