Canonical Allele Identifier: CA280489

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97480
• ClinVar RCV Id: RCV000083732
• dbSNP Id: rs104895089
• MyVariant Identifiers: chr16:g.3293449T>G (hg19) ; chr16:g.3243449T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243449T>G , CM000678.2:g.3243449T>G	GRCh38
NC_000016.9:g.3293449T>G , CM000678.1:g.3293449T>G	GRCh37
NC_000016.8:g.3233450T>G	NCBI36
NG_007871.1:g.18179A>C , LRG_190:g.18179A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1159A>C
ENST00000219596.6:c.2038A>C MANE Select	ENSP00000219596.1:p.Met680Leu
ENST00000219596.5:c.2038A>C	ENSP00000219596.1:p.Met680Leu
ENST00000339854.8:c.1498A>C	ENSP00000339639.4:p.Met500Leu
ENST00000536379.5:c.1405A>C	ENSP00000445079.1:p.Met469Leu
ENST00000536980.5:c.*314A>C	ENSP00000444178.1:n.*314A>C
ENST00000537682.5:c.*314A>C	ENSP00000438611.1:n.*314A>C
ENST00000538326.5:c.*663A>C	ENSP00000437486.1:n.*663A>C
ENST00000539145.5:c.959A>C	ENSP00000444471.1:n.959A>C
ENST00000541159.5:c.1580A>C	ENSP00000438711.1:n.1580A>C
ENST00000542898.5:c.*314A>C	ENSP00000444615.1:n.*314A>C
ENST00000570511.5:c.1443A>C	ENSP00000458312.1:n.1443A>C
ENST00000572244.5:c.728A>C	ENSP00000461186.1:n.728A>C
ENST00000574583.5:c.810A>C	ENSP00000460269.1:n.810A>C
ENST00000576315.5:c.843A>C	ENSP00000460551.1:n.843A>C
ENST00000621655.1:c.1575A>C	ENSP00000481436.1:n.1575A>C
NM_000243.2:c.2038A>C , LRG_190t1:c.2038A>C	NP_000234.1:p.Met680Leu
NM_001198536.1:c.*242A>C	NP_001185465.1:n.*242A>C
XM_017023236.2:c.2035A>C	XP_016878725.1:p.Met679Leu
NM_000243.3:c.2038A>C MANE Select	NP_000234.1:p.Met680Leu
NM_001198536.2:c.*242A>C	NP_001185465.2:n.*242A>C