Canonical Allele Identifier: CA2202659259

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244575G= , CM000678.2:g.3244575G=	GRCh38
NC_000016.9:g.3294575G= , CM000678.1:g.3294575G=	GRCh37
NC_000016.8:g.3234576G=	NCBI36
NG_007871.1:g.17053C= , LRG_190:g.17053C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.745C=
ENST00000219596.6:c.1624C= MANE Select	ENSP00000219596.1:p.Pro542=
ENST00000219596.5:c.1624C=	ENSP00000219596.1:p.Pro542=
ENST00000339854.8:c.1084C=	ENSP00000339639.4:p.Pro362=
ENST00000536379.5:c.991C=	ENSP00000445079.1:p.Pro331=
ENST00000536980.5:c.991C=	ENSP00000444178.1:p.Pro331=
ENST00000537682.5:c.1624C=	ENSP00000438611.1:p.Pro542=
ENST00000538326.5:c.*249C=	ENSP00000437486.1:n.*249C=
ENST00000539145.5:c.545C=	ENSP00000444471.1:n.545C=
ENST00000541159.5:c.991C=	ENSP00000438711.1:p.Pro331=
ENST00000542898.5:c.1717C=	ENSP00000444615.1:p.Pro573=
ENST00000570511.5:c.1165-683C=	ENSP00000458312.1:n.1165-683C=
ENST00000572244.5:c.314C=	ENSP00000461186.1:n.314C=
ENST00000574583.5:c.532-683C=	ENSP00000460269.1:n.532-683C=
ENST00000576315.5:c.532-289C=	ENSP00000460551.1:n.532-289C=
ENST00000621655.1:c.991C=	ENSP00000481436.1:p.Pro331=
NM_000243.2:c.1624C= , LRG_190t1:c.1624C=	NP_000234.1:p.Pro542=
NM_001198536.1:c.991C=	NP_001185465.1:p.Pro331=
XM_017023236.2:c.1621C=	XP_016878725.1:p.Pro541=
XR_001751903.1:n.1813C=
NM_000243.3:c.1624C= MANE Select	NP_000234.1:p.Pro542=
NM_001198536.2:c.991C=	NP_001185465.2:p.Pro331=