Canonical Allele Identifier: CA493383750

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293429A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243429A>G , CM000678.2:g.3243429A>G	GRCh38
NC_000016.9:g.3293429A>G , CM000678.1:g.3293429A>G	GRCh37
NC_000016.8:g.3233430A>G	NCBI36
NG_007871.1:g.18199T>C , LRG_190:g.18199T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1179T>C
ENST00000219596.6:c.2058T>C MANE Select	ENSP00000219596.1:p.Asn686=
ENST00000219596.5:c.2058T>C	ENSP00000219596.1:p.Asn686=
ENST00000339854.8:c.1518T>C	ENSP00000339639.4:p.Asn506=
ENST00000536379.5:c.1425T>C	ENSP00000445079.1:p.Asn475=
ENST00000536980.5:c.*334T>C	ENSP00000444178.1:n.*334T>C
ENST00000537682.5:c.*334T>C	ENSP00000438611.1:n.*334T>C
ENST00000538326.5:c.*683T>C	ENSP00000437486.1:n.*683T>C
ENST00000539145.5:c.979T>C	ENSP00000444471.1:n.979T>C
ENST00000541159.5:c.1600T>C	ENSP00000438711.1:n.1600T>C
ENST00000542898.5:c.*334T>C	ENSP00000444615.1:n.*334T>C
ENST00000570511.5:c.1463T>C	ENSP00000458312.1:n.1463T>C
ENST00000572244.5:c.748T>C	ENSP00000461186.1:n.748T>C
ENST00000574583.5:c.830T>C	ENSP00000460269.1:n.830T>C
ENST00000576315.5:c.863T>C	ENSP00000460551.1:n.863T>C
ENST00000621655.1:c.1595T>C	ENSP00000481436.1:n.1595T>C
NM_000243.2:c.2058T>C , LRG_190t1:c.2058T>C	NP_000234.1:p.Asn686=
NM_001198536.1:c.*262T>C	NP_001185465.1:n.*262T>C
XM_017023236.2:c.2055T>C	XP_016878725.1:p.Asn685=
NM_000243.3:c.2058T>C MANE Select	NP_000234.1:p.Asn686=
NM_001198536.2:c.*262T>C	NP_001185465.2:n.*262T>C