Canonical Allele Identifier: CA394486376

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293429A>C (hg19) ; chr16:g.3243429A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1179T>G
ENST00000219596.6:c.2058T>G MANE Select	ENSP00000219596.1:p.Asn686Lys
ENST00000219596.5:c.2058T>G	ENSP00000219596.1:p.Asn686Lys
ENST00000339854.8:c.1518T>G	ENSP00000339639.4:p.Asn506Lys
ENST00000536379.5:c.1425T>G	ENSP00000445079.1:p.Asn475Lys
ENST00000536980.5:c.*334T>G	ENSP00000444178.1:n.*334T>G
ENST00000537682.5:c.*334T>G	ENSP00000438611.1:n.*334T>G
ENST00000538326.5:c.*683T>G	ENSP00000437486.1:n.*683T>G
ENST00000539145.5:c.979T>G	ENSP00000444471.1:n.979T>G
ENST00000541159.5:c.1600T>G	ENSP00000438711.1:n.1600T>G
ENST00000542898.5:c.*334T>G	ENSP00000444615.1:n.*334T>G
ENST00000570511.5:c.1463T>G	ENSP00000458312.1:n.1463T>G
ENST00000572244.5:c.748T>G	ENSP00000461186.1:n.748T>G
ENST00000574583.5:c.830T>G	ENSP00000460269.1:n.830T>G
ENST00000576315.5:c.863T>G	ENSP00000460551.1:n.863T>G
ENST00000621655.1:c.1595T>G	ENSP00000481436.1:n.1595T>G
NM_000243.2:c.2058T>G , LRG_190t1:c.2058T>G	NP_000234.1:p.Asn686Lys
NM_001198536.1:c.*262T>G	NP_001185465.1:n.*262T>G
XM_017023236.2:c.2055T>G	XP_016878725.1:p.Asn685Lys
NM_000243.3:c.2058T>G MANE Select	NP_000234.1:p.Asn686Lys
NM_001198536.2:c.*262T>G	NP_001185465.2:n.*262T>G