Canonical Allele Identifier: CA7859932

Gene: MEFV

Linked Data

• ClinVar Variation Id: 669769
• ClinVar RCV Id: RCV000828867 ; RCV001471489 ; RCV003127484 ; RCV003127483
• dbSNP Id: rs139692347
• ExAC: 16:3293882 C / T
• gnomAD v2: 16-3293882-C-T
• gnomAD v3: 16-3243882-C-T
• gnomAD v4: 16-3243882-C-T
• MyVariant Identifiers: chr16:g.3293882C>T (hg19) ; chr16:g.3243882C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243882C>T , CM000678.2:g.3243882C>T	GRCh38
NC_000016.9:g.3293882C>T , CM000678.1:g.3293882C>T	GRCh37
NC_000016.8:g.3233883C>T	NCBI36
NG_007871.1:g.17746G>A , LRG_190:g.17746G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.891G>A
ENST00000219596.6:c.1770G>A MANE Select	ENSP00000219596.1:p.Leu590=
ENST00000219596.5:c.1770G>A	ENSP00000219596.1:p.Leu590=
ENST00000339854.8:c.1230G>A	ENSP00000339639.4:p.Leu410=
ENST00000536379.5:c.1137G>A	ENSP00000445079.1:p.Leu379=
ENST00000536980.5:c.*46G>A	ENSP00000444178.1:n.*46G>A
ENST00000537682.5:c.*46G>A	ENSP00000438611.1:n.*46G>A
ENST00000538326.5:c.*395G>A	ENSP00000437486.1:n.*395G>A
ENST00000539145.5:c.691G>A	ENSP00000444471.1:n.691G>A
ENST00000541159.5:c.1312G>A	ENSP00000438711.1:p.Asp438Asn
ENST00000542898.5:c.*46G>A	ENSP00000444615.1:n.*46G>A
ENST00000570511.5:c.1175G>A	ENSP00000458312.1:n.1175G>A
ENST00000572244.5:c.460G>A	ENSP00000461186.1:n.460G>A
ENST00000574583.5:c.542G>A	ENSP00000460269.1:n.542G>A
ENST00000576315.5:c.575G>A	ENSP00000460551.1:n.575G>A
ENST00000621655.1:c.1307G>A	ENSP00000481436.1:n.1307G>A
NM_000243.2:c.1770G>A , LRG_190t1:c.1770G>A	NP_000234.1:p.Leu590=
NM_001198536.1:c.1312G>A	NP_001185465.1:p.Asp438Asn
XM_017023236.2:c.1767G>A	XP_016878725.1:p.Leu589=
XR_001751903.1:n.2077G>A
NM_000243.3:c.1770G>A MANE Select	NP_000234.1:p.Leu590=
NM_001198536.2:c.1312G>A	NP_001185465.2:p.Asp438Asn