Canonical Allele Identifier: CA394463398

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3297056A>T (hg19) ; chr16:g.3247056A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247056A>T , CM000678.2:g.3247056A>T	GRCh38
NC_000016.9:g.3297056A>T , CM000678.1:g.3297056A>T	GRCh37
NC_000016.8:g.3237057A>T	NCBI36
NG_007871.1:g.14572T>A , LRG_190:g.14572T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.1547T>A MANE Select	ENSP00000219596.1:p.Leu516Gln
ENST00000219596.5:c.1547T>A	ENSP00000219596.1:p.Leu516Gln
ENST00000339854.8:c.1007T>A	ENSP00000339639.4:p.Leu336Gln
ENST00000536379.5:c.914T>A	ENSP00000445079.1:p.Leu305Gln
ENST00000536980.5:c.914T>A	ENSP00000444178.1:p.Leu305Gln
ENST00000537682.5:c.1547T>A	ENSP00000438611.1:p.Leu516Gln
ENST00000538326.5:c.*172T>A	ENSP00000437486.1:n.*172T>A
ENST00000539145.5:c.468T>A	ENSP00000444471.1:n.468T>A
ENST00000539154.1:n.912T>A
ENST00000541159.5:c.914T>A	ENSP00000438711.1:p.Leu305Gln
ENST00000542898.5:c.1640T>A	ENSP00000444615.1:p.Leu547Gln
ENST00000570511.5:c.1101T>A	ENSP00000458312.1:n.1101T>A
ENST00000572244.5:c.278-509T>A	ENSP00000461186.1:n.278-509T>A
ENST00000574583.5:c.468T>A	ENSP00000460269.1:n.468T>A
ENST00000576315.5:c.468T>A	ENSP00000460551.1:n.468T>A
ENST00000621655.1:c.914T>A	ENSP00000481436.1:p.Leu305Gln
NM_000243.2:c.1547T>A , LRG_190t1:c.1547T>A	NP_000234.1:p.Leu516Gln
NM_001198536.1:c.914T>A	NP_001185465.1:p.Leu305Gln
XM_017023236.2:c.1544T>A	XP_016878725.1:p.Leu515Gln
XR_001751903.1:n.1736T>A
NM_000243.3:c.1547T>A MANE Select	NP_000234.1:p.Leu516Gln
NM_001198536.2:c.914T>A	NP_001185465.2:p.Leu305Gln