Canonical Allele Identifier: CA280577

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97513
• ClinVar RCV Id: RCV000083765 ; RCV002281918 ; RCV002483164 ; RCV003126470 ; RCV003126469
• dbSNP Id: rs104895124
• gnomAD v2: 16-3306323-C-T
• gnomAD v3: 16-3256323-C-T
• gnomAD v4: 16-3256323-C-T
• COSMIC: COSM4701618 ; COSM4701619
• MyVariant Identifiers: chr16:g.3306323C>T (hg19) ; chr16:g.3256323C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3256323C>T , CM000678.2:g.3256323C>T	GRCh38
NC_000016.9:g.3306323C>T , CM000678.1:g.3306323C>T	GRCh37
NC_000016.8:g.3246324C>T	NCBI36
NG_007871.1:g.5305G>A , LRG_190:g.5305G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.265G>A MANE Select	ENSP00000219596.1:p.Ala89Thr
ENST00000219596.5:c.265G>A	ENSP00000219596.1:p.Ala89Thr
ENST00000339854.8:c.265G>A	ENSP00000339639.4:p.Ala89Thr
ENST00000536379.5:c.265G>A	ENSP00000445079.1:p.Ala89Thr
ENST00000536980.5:c.265G>A	ENSP00000444178.1:p.Ala89Thr
ENST00000537682.5:c.265G>A	ENSP00000438611.1:p.Ala89Thr
ENST00000538326.5:c.265G>A	ENSP00000437486.1:p.Ala89Thr
ENST00000539145.5:c.265G>A	ENSP00000444471.1:p.Ala89Thr
ENST00000541159.5:c.265G>A	ENSP00000438711.1:p.Ala89Thr
ENST00000542898.5:c.265G>A	ENSP00000444615.1:p.Ala89Thr
ENST00000570511.5:c.265G>A	ENSP00000458312.1:p.Ala89Thr
ENST00000572244.5:c.265G>A	ENSP00000461186.1:p.Ala89Thr
ENST00000574583.5:c.265G>A	ENSP00000460269.1:p.Ala89Thr
ENST00000576315.5:c.265G>A	ENSP00000460551.1:p.Ala89Thr
ENST00000621655.1:c.265G>A	ENSP00000481436.1:p.Ala89Thr
NM_000243.2:c.265G>A , LRG_190t1:c.265G>A	NP_000234.1:p.Ala89Thr
NM_001198536.1:c.265G>A	NP_001185465.1:p.Ala89Thr
XM_017023236.2:c.265G>A	XP_016878725.1:p.Ala89Thr
XR_001751903.1:n.454G>A
NM_000243.3:c.265G>A MANE Select	NP_000234.1:p.Ala89Thr
NM_001198536.2:c.265G>A	NP_001185465.2:p.Ala89Thr