Canonical Allele Identifier: CA280314

Gene: MEFV

Linked Data

• ClinVar Variation Id: 56145
• ClinVar RCV Id: RCV000049555
• dbSNP Id: rs387907568
• MyVariant Identifiers: chr16:g.3293577T>C (hg19) ; chr16:g.3243577T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243577T>C , CM000678.2:g.3243577T>C	GRCh38
NC_000016.9:g.3293577T>C , CM000678.1:g.3293577T>C	GRCh37
NC_000016.8:g.3233578T>C	NCBI36
NG_007871.1:g.18051A>G , LRG_190:g.18051A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1031A>G
ENST00000219596.6:c.1910A>G MANE Select	ENSP00000219596.1:p.Asp637Gly
ENST00000219596.5:c.1910A>G	ENSP00000219596.1:p.Asp637Gly
ENST00000339854.8:c.1370A>G	ENSP00000339639.4:p.Asp457Gly
ENST00000536379.5:c.1277A>G	ENSP00000445079.1:p.Asp426Gly
ENST00000536980.5:c.*186A>G	ENSP00000444178.1:n.*186A>G
ENST00000537682.5:c.*186A>G	ENSP00000438611.1:n.*186A>G
ENST00000538326.5:c.*535A>G	ENSP00000437486.1:n.*535A>G
ENST00000539145.5:c.831A>G	ENSP00000444471.1:n.831A>G
ENST00000541159.5:c.1452A>G	ENSP00000438711.1:n.1452A>G
ENST00000542898.5:c.*186A>G	ENSP00000444615.1:n.*186A>G
ENST00000570511.5:c.1315A>G	ENSP00000458312.1:n.1315A>G
ENST00000572244.5:c.600A>G	ENSP00000461186.1:n.600A>G
ENST00000574583.5:c.682A>G	ENSP00000460269.1:n.682A>G
ENST00000576315.5:c.715A>G	ENSP00000460551.1:n.715A>G
ENST00000621655.1:c.1447A>G	ENSP00000481436.1:n.1447A>G
NM_000243.2:c.1910A>G , LRG_190t1:c.1910A>G	NP_000234.1:p.Asp637Gly
NM_001198536.1:c.*114A>G	NP_001185465.1:n.*114A>G
XM_017023236.2:c.1907A>G	XP_016878725.1:p.Asp636Gly
NM_000243.3:c.1910A>G MANE Select	NP_000234.1:p.Asp637Gly
NM_001198536.2:c.*114A>G	NP_001185465.2:n.*114A>G