Canonical Allele Identifier: CA394484706

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293209T>C (hg19) ; chr16:g.3243209T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243209T>C , CM000678.2:g.3243209T>C	GRCh38
NC_000016.9:g.3293209T>C , CM000678.1:g.3293209T>C	GRCh37
NC_000016.8:g.3233210T>C	NCBI36
NG_007871.1:g.18419A>G , LRG_190:g.18419A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1399A>G
ENST00000219596.6:c.2278A>G MANE Select	ENSP00000219596.1:p.Thr760Ala
ENST00000219596.5:c.2278A>G	ENSP00000219596.1:p.Thr760Ala
ENST00000339854.8:c.1738A>G	ENSP00000339639.4:p.Thr580Ala
ENST00000536379.5:c.1645A>G	ENSP00000445079.1:p.Thr549Ala
ENST00000536980.5:c.*554A>G	ENSP00000444178.1:n.*554A>G
ENST00000537682.5:c.*554A>G	ENSP00000438611.1:n.*554A>G
ENST00000538326.5:c.*903A>G	ENSP00000437486.1:n.*903A>G
ENST00000539145.5:c.1199A>G	ENSP00000444471.1:n.1199A>G
ENST00000541159.5:c.1820A>G	ENSP00000438711.1:n.1820A>G
ENST00000542898.5:c.*554A>G	ENSP00000444615.1:n.*554A>G
ENST00000570511.5:c.1683A>G	ENSP00000458312.1:n.1683A>G
ENST00000572244.5:c.968A>G	ENSP00000461186.1:n.968A>G
ENST00000574583.5:c.1050A>G	ENSP00000460269.1:n.1050A>G
ENST00000576315.5:c.1083A>G	ENSP00000460551.1:n.1083A>G
ENST00000621655.1:c.1815A>G	ENSP00000481436.1:n.1815A>G
NM_000243.2:c.2278A>G , LRG_190t1:c.2278A>G	NP_000234.1:p.Thr760Ala
NM_001198536.1:c.*482A>G	NP_001185465.1:n.*482A>G
XM_017023236.2:c.2275A>G	XP_016878725.1:p.Thr759Ala
NM_000243.3:c.2278A>G MANE Select	NP_000234.1:p.Thr760Ala
NM_001198536.2:c.*482A>G	NP_001185465.2:n.*482A>G