Canonical Allele Identifier: CA394458306

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3294520A>T (hg19) ; chr16:g.3244520A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244520A>T , CM000678.2:g.3244520A>T	GRCh38
NC_000016.9:g.3294520A>T , CM000678.1:g.3294520A>T	GRCh37
NC_000016.8:g.3234521A>T	NCBI36
NG_007871.1:g.17108T>A , LRG_190:g.17108T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.800T>A
ENST00000219596.6:c.1679T>A MANE Select	ENSP00000219596.1:p.Leu560His
ENST00000219596.5:c.1679T>A	ENSP00000219596.1:p.Leu560His
ENST00000339854.8:c.1139T>A	ENSP00000339639.4:p.Leu380His
ENST00000536379.5:c.1046T>A	ENSP00000445079.1:p.Leu349His
ENST00000536980.5:c.1046T>A	ENSP00000444178.1:p.Leu349His
ENST00000537682.5:c.1679T>A	ENSP00000438611.1:p.Leu560His
ENST00000538326.5:c.*304T>A	ENSP00000437486.1:n.*304T>A
ENST00000539145.5:c.600T>A	ENSP00000444471.1:n.600T>A
ENST00000541159.5:c.1046T>A	ENSP00000438711.1:p.Leu349His
ENST00000542898.5:c.1772T>A	ENSP00000444615.1:p.Leu591His
ENST00000570511.5:c.1165-628T>A	ENSP00000458312.1:n.1165-628T>A
ENST00000572244.5:c.369T>A	ENSP00000461186.1:n.369T>A
ENST00000574583.5:c.532-628T>A	ENSP00000460269.1:n.532-628T>A
ENST00000576315.5:c.532-234T>A	ENSP00000460551.1:n.532-234T>A
ENST00000621655.1:c.1046T>A	ENSP00000481436.1:p.Leu349His
NM_000243.2:c.1679T>A , LRG_190t1:c.1679T>A	NP_000234.1:p.Leu560His
NM_001198536.1:c.1046T>A	NP_001185465.1:p.Leu349His
XM_017023236.2:c.1676T>A	XP_016878725.1:p.Leu559His
XR_001751903.1:n.1868T>A
NM_000243.3:c.1679T>A MANE Select	NP_000234.1:p.Leu560His
NM_001198536.2:c.1046T>A	NP_001185465.2:p.Leu349His