Canonical Allele Identifier: CA394484897

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293229T>A (hg19) ; chr16:g.3243229T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243229T>A , CM000678.2:g.3243229T>A	GRCh38
NC_000016.9:g.3293229T>A , CM000678.1:g.3293229T>A	GRCh37
NC_000016.8:g.3233230T>A	NCBI36
NG_007871.1:g.18399A>T , LRG_190:g.18399A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1379A>T
ENST00000219596.6:c.2258A>T MANE Select	ENSP00000219596.1:p.Gln753Leu
ENST00000219596.5:c.2258A>T	ENSP00000219596.1:p.Gln753Leu
ENST00000339854.8:c.1718A>T	ENSP00000339639.4:p.Gln573Leu
ENST00000536379.5:c.1625A>T	ENSP00000445079.1:p.Gln542Leu
ENST00000536980.5:c.*534A>T	ENSP00000444178.1:n.*534A>T
ENST00000537682.5:c.*534A>T	ENSP00000438611.1:n.*534A>T
ENST00000538326.5:c.*883A>T	ENSP00000437486.1:n.*883A>T
ENST00000539145.5:c.1179A>T	ENSP00000444471.1:n.1179A>T
ENST00000541159.5:c.1800A>T	ENSP00000438711.1:n.1800A>T
ENST00000542898.5:c.*534A>T	ENSP00000444615.1:n.*534A>T
ENST00000570511.5:c.1663A>T	ENSP00000458312.1:n.1663A>T
ENST00000572244.5:c.948A>T	ENSP00000461186.1:n.948A>T
ENST00000574583.5:c.1030A>T	ENSP00000460269.1:n.1030A>T
ENST00000576315.5:c.1063A>T	ENSP00000460551.1:n.1063A>T
ENST00000621655.1:c.1795A>T	ENSP00000481436.1:n.1795A>T
NM_000243.2:c.2258A>T , LRG_190t1:c.2258A>T	NP_000234.1:p.Gln753Leu
NM_001198536.1:c.*462A>T	NP_001185465.1:n.*462A>T
XM_017023236.2:c.2255A>T	XP_016878725.1:p.Gln752Leu
NM_000243.3:c.2258A>T MANE Select	NP_000234.1:p.Gln753Leu
NM_001198536.2:c.*462A>T	NP_001185465.2:n.*462A>T