Canonical Allele Identifier: CA394459010

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3294569G>T (hg19) ; chr16:g.3244569G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244569G>T , CM000678.2:g.3244569G>T	GRCh38
NC_000016.9:g.3294569G>T , CM000678.1:g.3294569G>T	GRCh37
NC_000016.8:g.3234570G>T	NCBI36
NG_007871.1:g.17059C>A , LRG_190:g.17059C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.751C>A
ENST00000219596.6:c.1630C>A MANE Select	ENSP00000219596.1:p.Pro544Thr
ENST00000219596.5:c.1630C>A	ENSP00000219596.1:p.Pro544Thr
ENST00000339854.8:c.1090C>A	ENSP00000339639.4:p.Pro364Thr
ENST00000536379.5:c.997C>A	ENSP00000445079.1:p.Pro333Thr
ENST00000536980.5:c.997C>A	ENSP00000444178.1:p.Pro333Thr
ENST00000537682.5:c.1630C>A	ENSP00000438611.1:p.Pro544Thr
ENST00000538326.5:c.*255C>A	ENSP00000437486.1:n.*255C>A
ENST00000539145.5:c.551C>A	ENSP00000444471.1:n.551C>A
ENST00000541159.5:c.997C>A	ENSP00000438711.1:p.Pro333Thr
ENST00000542898.5:c.1723C>A	ENSP00000444615.1:p.Pro575Thr
ENST00000570511.5:c.1165-677C>A	ENSP00000458312.1:n.1165-677C>A
ENST00000572244.5:c.320C>A	ENSP00000461186.1:n.320C>A
ENST00000574583.5:c.532-677C>A	ENSP00000460269.1:n.532-677C>A
ENST00000576315.5:c.532-283C>A	ENSP00000460551.1:n.532-283C>A
ENST00000621655.1:c.997C>A	ENSP00000481436.1:p.Pro333Thr
NM_000243.2:c.1630C>A , LRG_190t1:c.1630C>A	NP_000234.1:p.Pro544Thr
NM_001198536.1:c.997C>A	NP_001185465.1:p.Pro333Thr
XM_017023236.2:c.1627C>A	XP_016878725.1:p.Pro543Thr
XR_001751903.1:n.1819C>A
NM_000243.3:c.1630C>A MANE Select	NP_000234.1:p.Pro544Thr
NM_001198536.2:c.997C>A	NP_001185465.2:p.Pro333Thr