Canonical Allele Identifier: CA394489033

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293900G>C (hg19) ; chr16:g.3243900G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243900G>C , CM000678.2:g.3243900G>C	GRCh38
NC_000016.9:g.3293900G>C , CM000678.1:g.3293900G>C	GRCh37
NC_000016.8:g.3233901G>C	NCBI36
NG_007871.1:g.17728C>G , LRG_190:g.17728C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.881-8C>G
ENST00000219596.6:c.1760-8C>G MANE Select	ENSP00000219596.1:n.1760-8C>G
ENST00000219596.5:c.1760-8C>G	ENSP00000219596.1:n.1760-8C>G
ENST00000339854.8:c.1220-8C>G	ENSP00000339639.4:n.1220-8C>G
ENST00000536379.5:c.1127-8C>G	ENSP00000445079.1:n.1127-8C>G
ENST00000536980.5:c.*36-8C>G	ENSP00000444178.1:n.*36-8C>G
ENST00000537682.5:c.*36-8C>G	ENSP00000438611.1:n.*36-8C>G
ENST00000538326.5:c.*385-8C>G	ENSP00000437486.1:n.*385-8C>G
ENST00000539145.5:c.681-8C>G	ENSP00000444471.1:n.681-8C>G
ENST00000541159.5:c.1294C>G	ENSP00000438711.1:p.Leu432Val
ENST00000542898.5:c.*36-8C>G	ENSP00000444615.1:n.*36-8C>G
ENST00000570511.5:c.1165-8C>G	ENSP00000458312.1:n.1165-8C>G
ENST00000572244.5:c.450-8C>G	ENSP00000461186.1:n.450-8C>G
ENST00000574583.5:c.532-8C>G	ENSP00000460269.1:n.532-8C>G
ENST00000576315.5:c.565-8C>G	ENSP00000460551.1:n.565-8C>G
ENST00000621655.1:c.1289C>G	ENSP00000481436.1:n.1289C>G
NM_000243.2:c.1760-8C>G , LRG_190t1:c.1760-8C>G	NP_000234.1:n.1760-8C>G
NM_001198536.1:c.1294C>G	NP_001185465.1:p.Leu432Val
XM_017023236.2:c.1757-8C>G	XP_016878725.1:n.1757-8C>G
XR_001751903.1:n.2067-8C>G
NM_000243.3:c.1760-8C>G MANE Select	NP_000234.1:n.1760-8C>G
NM_001198536.2:c.1294C>G	NP_001185465.2:p.Leu432Val