Canonical Allele Identifier: CA394487602

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1520034
• ClinVar RCV Id: RCV002024878
• dbSNP Id: rs2141665051
• gnomAD v4: 16-3243554-A-G
• MyVariant Identifiers: chr16:g.3293554A>G (hg19) ; chr16:g.3243554A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243554A>G , CM000678.2:g.3243554A>G	GRCh38
NC_000016.9:g.3293554A>G , CM000678.1:g.3293554A>G	GRCh37
NC_000016.8:g.3233555A>G	NCBI36
NG_007871.1:g.18074T>C , LRG_190:g.18074T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1054T>C
ENST00000219596.6:c.1933T>C MANE Select	ENSP00000219596.1:p.Ser645Pro
ENST00000219596.5:c.1933T>C	ENSP00000219596.1:p.Ser645Pro
ENST00000339854.8:c.1393T>C	ENSP00000339639.4:p.Ser465Pro
ENST00000536379.5:c.1300T>C	ENSP00000445079.1:p.Ser434Pro
ENST00000536980.5:c.*209T>C	ENSP00000444178.1:n.*209T>C
ENST00000537682.5:c.*209T>C	ENSP00000438611.1:n.*209T>C
ENST00000538326.5:c.*558T>C	ENSP00000437486.1:n.*558T>C
ENST00000539145.5:c.854T>C	ENSP00000444471.1:n.854T>C
ENST00000541159.5:c.1475T>C	ENSP00000438711.1:n.1475T>C
ENST00000542898.5:c.*209T>C	ENSP00000444615.1:n.*209T>C
ENST00000570511.5:c.1338T>C	ENSP00000458312.1:n.1338T>C
ENST00000572244.5:c.623T>C	ENSP00000461186.1:n.623T>C
ENST00000574583.5:c.705T>C	ENSP00000460269.1:n.705T>C
ENST00000576315.5:c.738T>C	ENSP00000460551.1:n.738T>C
ENST00000621655.1:c.1470T>C	ENSP00000481436.1:n.1470T>C
NM_000243.2:c.1933T>C , LRG_190t1:c.1933T>C	NP_000234.1:p.Ser645Pro
NM_001198536.1:c.*137T>C	NP_001185465.1:n.*137T>C
XM_017023236.2:c.1930T>C	XP_016878725.1:p.Ser644Pro
NM_000243.3:c.1933T>C MANE Select	NP_000234.1:p.Ser645Pro
NM_001198536.2:c.*137T>C	NP_001185465.2:n.*137T>C