Canonical Allele Identifier: CA280480

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97476
• ClinVar RCV Id: RCV000083728
• dbSNP Id: rs104895212
• gnomAD v2: 16-3293512-C-A
• gnomAD v4: 16-3243512-C-A
• MyVariant Identifiers: chr16:g.3293512C>A (hg19) ; chr16:g.3243512C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243512C>A , CM000678.2:g.3243512C>A	GRCh38
NC_000016.9:g.3293512C>A , CM000678.1:g.3293512C>A	GRCh37
NC_000016.8:g.3233513C>A	NCBI36
NG_007871.1:g.18116G>T , LRG_190:g.18116G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1096G>T
ENST00000219596.6:c.1975G>T MANE Select	ENSP00000219596.1:p.Val659Phe
ENST00000219596.5:c.1975G>T	ENSP00000219596.1:p.Val659Phe
ENST00000339854.8:c.1435G>T	ENSP00000339639.4:p.Val479Phe
ENST00000536379.5:c.1342G>T	ENSP00000445079.1:p.Val448Phe
ENST00000536980.5:c.*251G>T	ENSP00000444178.1:n.*251G>T
ENST00000537682.5:c.*251G>T	ENSP00000438611.1:n.*251G>T
ENST00000538326.5:c.*600G>T	ENSP00000437486.1:n.*600G>T
ENST00000539145.5:c.896G>T	ENSP00000444471.1:n.896G>T
ENST00000541159.5:c.1517G>T	ENSP00000438711.1:n.1517G>T
ENST00000542898.5:c.*251G>T	ENSP00000444615.1:n.*251G>T
ENST00000570511.5:c.1380G>T	ENSP00000458312.1:n.1380G>T
ENST00000572244.5:c.665G>T	ENSP00000461186.1:n.665G>T
ENST00000574583.5:c.747G>T	ENSP00000460269.1:n.747G>T
ENST00000576315.5:c.780G>T	ENSP00000460551.1:n.780G>T
ENST00000621655.1:c.1512G>T	ENSP00000481436.1:n.1512G>T
NM_000243.2:c.1975G>T , LRG_190t1:c.1975G>T	NP_000234.1:p.Val659Phe
NM_001198536.1:c.*179G>T	NP_001185465.1:n.*179G>T
XM_017023236.2:c.1972G>T	XP_016878725.1:p.Val658Phe
NM_000243.3:c.1975G>T MANE Select	NP_000234.1:p.Val659Phe
NM_001198536.2:c.*179G>T	NP_001185465.2:n.*179G>T