Canonical Allele Identifier: CA280564

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97508
• ClinVar RCV Id: RCV000083760
• dbSNP Id: rs104895114
• MyVariant Identifiers: chr16:g.3293215G>A (hg19) ; chr16:g.3243215G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243215G>A , CM000678.2:g.3243215G>A	GRCh38
NC_000016.9:g.3293215G>A , CM000678.1:g.3293215G>A	GRCh37
NC_000016.8:g.3233216G>A	NCBI36
NG_007871.1:g.18413C>T , LRG_190:g.18413C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1393C>T
ENST00000219596.6:c.2272C>T MANE Select	ENSP00000219596.1:p.Pro758Ser
ENST00000219596.5:c.2272C>T	ENSP00000219596.1:p.Pro758Ser
ENST00000339854.8:c.1732C>T	ENSP00000339639.4:p.Pro578Ser
ENST00000536379.5:c.1639C>T	ENSP00000445079.1:p.Pro547Ser
ENST00000536980.5:c.*548C>T	ENSP00000444178.1:n.*548C>T
ENST00000537682.5:c.*548C>T	ENSP00000438611.1:n.*548C>T
ENST00000538326.5:c.*897C>T	ENSP00000437486.1:n.*897C>T
ENST00000539145.5:c.1193C>T	ENSP00000444471.1:n.1193C>T
ENST00000541159.5:c.1814C>T	ENSP00000438711.1:n.1814C>T
ENST00000542898.5:c.*548C>T	ENSP00000444615.1:n.*548C>T
ENST00000570511.5:c.1677C>T	ENSP00000458312.1:n.1677C>T
ENST00000572244.5:c.962C>T	ENSP00000461186.1:n.962C>T
ENST00000574583.5:c.1044C>T	ENSP00000460269.1:n.1044C>T
ENST00000576315.5:c.1077C>T	ENSP00000460551.1:n.1077C>T
ENST00000621655.1:c.1809C>T	ENSP00000481436.1:n.1809C>T
NM_000243.2:c.2272C>T , LRG_190t1:c.2272C>T	NP_000234.1:p.Pro758Ser
NM_001198536.1:c.*476C>T	NP_001185465.1:n.*476C>T
XM_017023236.2:c.2269C>T	XP_016878725.1:p.Pro757Ser
NM_000243.3:c.2272C>T MANE Select	NP_000234.1:p.Pro758Ser
NM_001198536.2:c.*476C>T	NP_001185465.2:n.*476C>T