Canonical Allele Identifier: CA7860040

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244522G>A , CM000678.2:g.3244522G>A	GRCh38
NC_000016.9:g.3294522G>A , CM000678.1:g.3294522G>A	GRCh37
NC_000016.8:g.3234523G>A	NCBI36
NG_007871.1:g.17106C>T , LRG_190:g.17106C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000243.3:c.1677C>T MANE Select	NP_000234.1:p.Leu559=
ENST00000219596.6:c.1677C>T MANE Select	ENSP00000219596.1:p.Leu559=
NM_000243.2:c.1677C>T , LRG_190t1:c.1677C>T	NP_000234.1:p.Leu559=
NM_001198536.1:c.1044C>T	NP_001185465.1:p.Leu348=
NM_001198536.2:c.1044C>T	NP_001185465.2:p.Leu348=
ENST00000219596.5:c.1677C>T	ENSP00000219596.1:p.Leu559=
ENST00000339854.8:c.1137C>T	ENSP00000339639.4:p.Leu379=
ENST00000536379.5:c.1044C>T	ENSP00000445079.1:p.Leu348=
ENST00000536980.5:c.1044C>T	ENSP00000444178.1:p.Leu348=
ENST00000537682.5:c.1677C>T	ENSP00000438611.1:p.Leu559=
ENST00000538326.5:c.*302C>T	ENSP00000437486.1:n.*302C>T
ENST00000539145.5:c.598C>T	ENSP00000444471.1:n.598C>T
ENST00000541159.5:c.1044C>T	ENSP00000438711.1:p.Leu348=
ENST00000542898.5:c.1770C>T	ENSP00000444615.1:p.Leu590=
ENST00000570511.5:c.1165-630C>T	ENSP00000458312.1:n.1165-630C>T
ENST00000572244.5:c.367C>T	ENSP00000461186.1:n.367C>T
ENST00000574583.5:c.532-630C>T	ENSP00000460269.1:n.532-630C>T
ENST00000576315.5:c.532-236C>T	ENSP00000460551.1:n.532-236C>T
ENST00000621655.1:c.1044C>T	ENSP00000481436.1:p.Leu348=
ENST00000697124.1:n.798C>T
XM_017023236.2:c.1674C>T	XP_016878725.1:p.Leu558=
XR_001751903.1:n.1866C>T