Canonical Allele Identifier: CA394486565

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293448A>T (hg19) ; chr16:g.3243448A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243448A>T , CM000678.2:g.3243448A>T	GRCh38
NC_000016.9:g.3293448A>T , CM000678.1:g.3293448A>T	GRCh37
NC_000016.8:g.3233449A>T	NCBI36
NG_007871.1:g.18180T>A , LRG_190:g.18180T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1160T>A
ENST00000219596.6:c.2039T>A MANE Select	ENSP00000219596.1:p.Met680Lys
ENST00000219596.5:c.2039T>A	ENSP00000219596.1:p.Met680Lys
ENST00000339854.8:c.1499T>A	ENSP00000339639.4:p.Met500Lys
ENST00000536379.5:c.1406T>A	ENSP00000445079.1:p.Met469Lys
ENST00000536980.5:c.*315T>A	ENSP00000444178.1:n.*315T>A
ENST00000537682.5:c.*315T>A	ENSP00000438611.1:n.*315T>A
ENST00000538326.5:c.*664T>A	ENSP00000437486.1:n.*664T>A
ENST00000539145.5:c.960T>A	ENSP00000444471.1:n.960T>A
ENST00000541159.5:c.1581T>A	ENSP00000438711.1:n.1581T>A
ENST00000542898.5:c.*315T>A	ENSP00000444615.1:n.*315T>A
ENST00000570511.5:c.1444T>A	ENSP00000458312.1:n.1444T>A
ENST00000572244.5:c.729T>A	ENSP00000461186.1:n.729T>A
ENST00000574583.5:c.811T>A	ENSP00000460269.1:n.811T>A
ENST00000576315.5:c.844T>A	ENSP00000460551.1:n.844T>A
ENST00000621655.1:c.1576T>A	ENSP00000481436.1:n.1576T>A
NM_000243.2:c.2039T>A , LRG_190t1:c.2039T>A	NP_000234.1:p.Met680Lys
NM_001198536.1:c.*243T>A	NP_001185465.1:n.*243T>A
XM_017023236.2:c.2036T>A	XP_016878725.1:p.Met679Lys
NM_000243.3:c.2039T>A MANE Select	NP_000234.1:p.Met680Lys
NM_001198536.2:c.*243T>A	NP_001185465.2:n.*243T>A