Canonical Allele Identifier: CA7859933

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1147321
• ClinVar RCV Id: RCV001486820
• dbSNP Id: rs1231122
• ExAC: 16:3293888 C / A
• gnomAD v2: 16-3293888-C-A
• gnomAD v4: 16-3243888-C-A
• MyVariant Identifiers: chr16:g.3293888C>A (hg19) ; chr16:g.3243888C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243888C>A , CM000678.2:g.3243888C>A	GRCh38
NC_000016.9:g.3293888C>A , CM000678.1:g.3293888C>A	GRCh37
NC_000016.8:g.3233889C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.885G>T
ENST00000219596.6:c.1764G>T MANE Select	ENSP00000219596.1:p.Pro588=
ENST00000219596.5:c.1764G>T	ENSP00000219596.1:p.Pro588=
ENST00000339854.8:c.1224G>T	ENSP00000339639.4:p.Pro408=
ENST00000536379.5:c.1131G>T	ENSP00000445079.1:p.Pro377=
ENST00000536980.5:c.*40G>T	ENSP00000444178.1:n.*40G>T
ENST00000537682.5:c.*40G>T	ENSP00000438611.1:n.*40G>T
ENST00000538326.5:c.*389G>T	ENSP00000437486.1:n.*389G>T
ENST00000539145.5:c.685G>T	ENSP00000444471.1:n.685G>T
ENST00000541159.5:c.1306G>T	ENSP00000438711.1:p.Gly436Ter
ENST00000542898.5:c.*40G>T	ENSP00000444615.1:n.*40G>T
ENST00000570511.5:c.1169G>T	ENSP00000458312.1:n.1169G>T
ENST00000572244.5:c.454G>T	ENSP00000461186.1:n.454G>T
ENST00000574583.5:c.536G>T	ENSP00000460269.1:n.536G>T
ENST00000576315.5:c.569G>T	ENSP00000460551.1:n.569G>T
ENST00000621655.1:c.1301G>T	ENSP00000481436.1:n.1301G>T
XM_017023236.2:c.1761G>T	XP_016878725.1:p.Pro587=
XR_001751903.1:n.2071G>T
NM_000243.3:c.1764G>T MANE Select	NP_000234.1:p.Pro588=
NM_001198536.2:c.1306G>T	NP_001185465.2:p.Gly436Ter