Canonical Allele Identifier: CA2202658573

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243274G= , CM000678.2:g.3243274G=	GRCh38
NC_000016.9:g.3293274G= , CM000678.1:g.3293274G=	GRCh37
NC_000016.8:g.3233275G=	NCBI36
NG_007871.1:g.18354C= , LRG_190:g.18354C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1334C=
ENST00000219596.6:c.2213C= MANE Select	ENSP00000219596.1:p.Ser738=
ENST00000219596.5:c.2213C=	ENSP00000219596.1:p.Ser738=
ENST00000339854.8:c.1673C=	ENSP00000339639.4:p.Ser558=
ENST00000536379.5:c.1580C=	ENSP00000445079.1:p.Ser527=
ENST00000536980.5:c.*489C=	ENSP00000444178.1:n.*489C=
ENST00000537682.5:c.*489C=	ENSP00000438611.1:n.*489C=
ENST00000538326.5:c.*838C=	ENSP00000437486.1:n.*838C=
ENST00000539145.5:c.1134C=	ENSP00000444471.1:n.1134C=
ENST00000541159.5:c.1755C=	ENSP00000438711.1:n.1755C=
ENST00000542898.5:c.*489C=	ENSP00000444615.1:n.*489C=
ENST00000570511.5:c.1618C=	ENSP00000458312.1:n.1618C=
ENST00000572244.5:c.903C=	ENSP00000461186.1:n.903C=
ENST00000574583.5:c.985C=	ENSP00000460269.1:n.985C=
ENST00000576315.5:c.1018C=	ENSP00000460551.1:n.1018C=
ENST00000621655.1:c.1750C=	ENSP00000481436.1:n.1750C=
NM_000243.2:c.2213C= , LRG_190t1:c.2213C=	NP_000234.1:p.Ser738=
NM_001198536.1:c.*417C=	NP_001185465.1:n.*417C=
XM_017023236.2:c.2210C=	XP_016878725.1:p.Ser737=
NM_000243.3:c.2213C= MANE Select	NP_000234.1:p.Ser738=
NM_001198536.2:c.*417C=	NP_001185465.2:n.*417C=