Canonical Allele Identifier: CA394459189

Gene: MEFV

Linked Data

• dbSNP Id: rs1296818739
• gnomAD v2: 16-3294587-C-T
• gnomAD v4: 16-3244587-C-T
• COSMIC: COSM1318587 ; COSM1318588
• MyVariant Identifiers: chr16:g.3294587C>T (hg19) ; chr16:g.3244587C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244587C>T , CM000678.2:g.3244587C>T	GRCh38
NC_000016.9:g.3294587C>T , CM000678.1:g.3294587C>T	GRCh37
NC_000016.8:g.3234588C>T	NCBI36
NG_007871.1:g.17041G>A , LRG_190:g.17041G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.733G>A
ENST00000219596.6:c.1612G>A MANE Select	ENSP00000219596.1:p.Ala538Thr
ENST00000219596.5:c.1612G>A	ENSP00000219596.1:p.Ala538Thr
ENST00000339854.8:c.1072G>A	ENSP00000339639.4:p.Ala358Thr
ENST00000536379.5:c.979G>A	ENSP00000445079.1:p.Ala327Thr
ENST00000536980.5:c.979G>A	ENSP00000444178.1:p.Ala327Thr
ENST00000537682.5:c.1612G>A	ENSP00000438611.1:p.Ala538Thr
ENST00000538326.5:c.*237G>A	ENSP00000437486.1:n.*237G>A
ENST00000539145.5:c.533G>A	ENSP00000444471.1:n.533G>A
ENST00000541159.5:c.979G>A	ENSP00000438711.1:p.Ala327Thr
ENST00000542898.5:c.1705G>A	ENSP00000444615.1:p.Ala569Thr
ENST00000570511.5:c.1165-695G>A	ENSP00000458312.1:n.1165-695G>A
ENST00000572244.5:c.302G>A	ENSP00000461186.1:p.Gly101Asp
ENST00000574583.5:c.532-695G>A	ENSP00000460269.1:n.532-695G>A
ENST00000576315.5:c.532-301G>A	ENSP00000460551.1:n.532-301G>A
ENST00000621655.1:c.979G>A	ENSP00000481436.1:p.Ala327Thr
NM_000243.2:c.1612G>A , LRG_190t1:c.1612G>A	NP_000234.1:p.Ala538Thr
NM_001198536.1:c.979G>A	NP_001185465.1:p.Ala327Thr
XM_017023236.2:c.1609G>A	XP_016878725.1:p.Ala537Thr
XR_001751903.1:n.1801G>A
NM_000243.3:c.1612G>A MANE Select	NP_000234.1:p.Ala538Thr
NM_001198536.2:c.979G>A	NP_001185465.2:p.Ala327Thr