Canonical Allele Identifier: CA394463395

Gene: MEFV

Linked Data

• gnomAD v4: 16-3247056-A-C
• MyVariant Identifiers: chr16:g.3297056A>C (hg19) ; chr16:g.3247056A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.1547T>G MANE Select	ENSP00000219596.1:p.Leu516Arg
ENST00000219596.5:c.1547T>G	ENSP00000219596.1:p.Leu516Arg
ENST00000339854.8:c.1007T>G	ENSP00000339639.4:p.Leu336Arg
ENST00000536379.5:c.914T>G	ENSP00000445079.1:p.Leu305Arg
ENST00000536980.5:c.914T>G	ENSP00000444178.1:p.Leu305Arg
ENST00000537682.5:c.1547T>G	ENSP00000438611.1:p.Leu516Arg
ENST00000538326.5:c.*172T>G	ENSP00000437486.1:n.*172T>G
ENST00000539145.5:c.468T>G	ENSP00000444471.1:n.468T>G
ENST00000539154.1:n.912T>G
ENST00000541159.5:c.914T>G	ENSP00000438711.1:p.Leu305Arg
ENST00000542898.5:c.1640T>G	ENSP00000444615.1:p.Leu547Arg
ENST00000570511.5:c.1101T>G	ENSP00000458312.1:n.1101T>G
ENST00000572244.5:c.278-509T>G	ENSP00000461186.1:n.278-509T>G
ENST00000574583.5:c.468T>G	ENSP00000460269.1:n.468T>G
ENST00000576315.5:c.468T>G	ENSP00000460551.1:n.468T>G
ENST00000621655.1:c.914T>G	ENSP00000481436.1:p.Leu305Arg
NM_000243.2:c.1547T>G , LRG_190t1:c.1547T>G	NP_000234.1:p.Leu516Arg
NM_001198536.1:c.914T>G	NP_001185465.1:p.Leu305Arg
XM_017023236.2:c.1544T>G	XP_016878725.1:p.Leu515Arg
XR_001751903.1:n.1736T>G
NM_000243.3:c.1547T>G MANE Select	NP_000234.1:p.Leu516Arg
NM_001198536.2:c.914T>G	NP_001185465.2:p.Leu305Arg