Canonical Allele Identifier: CA394484172

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293141T>A (hg19) ; chr16:g.3243141T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243141T>A , CM000678.2:g.3243141T>A	GRCh38
NC_000016.9:g.3293141T>A , CM000678.1:g.3293141T>A	GRCh37
NC_000016.8:g.3233142T>A	NCBI36
NG_007871.1:g.18487A>T , LRG_190:g.18487A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1467A>T
ENST00000219596.6:c.2346A>T MANE Select	ENSP00000219596.1:p.Ter782Cys
ENST00000219596.5:c.2346A>T	ENSP00000219596.1:p.Ter782Cys
ENST00000339854.8:c.1806A>T	ENSP00000339639.4:p.Ter602Cys
ENST00000536379.5:c.1713A>T	ENSP00000445079.1:p.Ter571Cys
ENST00000536980.5:c.*622A>T	ENSP00000444178.1:n.*622A>T
ENST00000537682.5:c.*622A>T	ENSP00000438611.1:n.*622A>T
ENST00000538326.5:c.*971A>T	ENSP00000437486.1:n.*971A>T
ENST00000539145.5:c.1267A>T	ENSP00000444471.1:n.1267A>T
ENST00000541159.5:c.1888A>T	ENSP00000438711.1:n.1888A>T
ENST00000542898.5:c.*622A>T	ENSP00000444615.1:n.*622A>T
ENST00000570511.5:c.1751A>T	ENSP00000458312.1:n.1751A>T
ENST00000572244.5:c.1036A>T	ENSP00000461186.1:n.1036A>T
ENST00000574583.5:c.1118A>T	ENSP00000460269.1:n.1118A>T
ENST00000576315.5:c.1151A>T	ENSP00000460551.1:n.1151A>T
ENST00000621655.1:c.1883A>T	ENSP00000481436.1:n.1883A>T
NM_000243.2:c.2346A>T , LRG_190t1:c.2346A>T	NP_000234.1:p.Ter782Cys
NM_001198536.1:c.*550A>T	NP_001185465.1:n.*550A>T
XM_017023236.2:c.2343A>T	XP_016878725.1:p.Ter781Cys
NM_000243.3:c.2346A>T MANE Select	NP_000234.1:p.Ter782Cys
NM_001198536.2:c.*550A>T	NP_001185465.2:n.*550A>T