Canonical Allele Identifier: CA280487

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97479
• ClinVar RCV Id: RCV000083731 ; RCV000414076 ; RCV002498439 ; RCV003126441 ; RCV003126442
• dbSNP Id: rs104895088
• ExAC: 16:3293454 C / T
• gnomAD v2: 16-3293454-C-T
• gnomAD v3: 16-3243454-C-T
• gnomAD v4: 16-3243454-C-T
• MyVariant Identifiers: chr16:g.3293454C>T (hg19) ; chr16:g.3243454C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243454C>T , CM000678.2:g.3243454C>T	GRCh38
NC_000016.9:g.3293454C>T , CM000678.1:g.3293454C>T	GRCh37
NC_000016.8:g.3233455C>T	NCBI36
NG_007871.1:g.18174G>A , LRG_190:g.18174G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1154G>A
ENST00000219596.6:c.2033G>A MANE Select	ENSP00000219596.1:p.Gly678Glu
ENST00000219596.5:c.2033G>A	ENSP00000219596.1:p.Gly678Glu
ENST00000339854.8:c.1493G>A	ENSP00000339639.4:p.Gly498Glu
ENST00000536379.5:c.1400G>A	ENSP00000445079.1:p.Gly467Glu
ENST00000536980.5:c.*309G>A	ENSP00000444178.1:n.*309G>A
ENST00000537682.5:c.*309G>A	ENSP00000438611.1:n.*309G>A
ENST00000538326.5:c.*658G>A	ENSP00000437486.1:n.*658G>A
ENST00000539145.5:c.954G>A	ENSP00000444471.1:n.954G>A
ENST00000541159.5:c.1575G>A	ENSP00000438711.1:n.1575G>A
ENST00000542898.5:c.*309G>A	ENSP00000444615.1:n.*309G>A
ENST00000570511.5:c.1438G>A	ENSP00000458312.1:n.1438G>A
ENST00000572244.5:c.723G>A	ENSP00000461186.1:n.723G>A
ENST00000574583.5:c.805G>A	ENSP00000460269.1:n.805G>A
ENST00000576315.5:c.838G>A	ENSP00000460551.1:n.838G>A
ENST00000621655.1:c.1570G>A	ENSP00000481436.1:n.1570G>A
NM_000243.2:c.2033G>A , LRG_190t1:c.2033G>A	NP_000234.1:p.Gly678Glu
NM_001198536.1:c.*237G>A	NP_001185465.1:n.*237G>A
XM_017023236.2:c.2030G>A	XP_016878725.1:p.Gly677Glu
NM_000243.3:c.2033G>A MANE Select	NP_000234.1:p.Gly678Glu
NM_001198536.2:c.*237G>A	NP_001185465.2:n.*237G>A