Canonical Allele Identifier: CA7860378

Gene: MEFV

Linked Data

• ClinVar Variation Id: 253024
• ClinVar RCV Id: RCV000491523 ; RCV001804980 ; RCV003126649 ; RCV003126650 ; RCV003480573
• dbSNP Id: rs775663363
• ExAC: 16:3304457 C / T
• gnomAD v2: 16-3304457-C-T
• gnomAD v3: 16-3254457-C-T
• gnomAD v4: 16-3254457-C-T
• MyVariant Identifiers: chr16:g.3304457C>T (hg19) ; chr16:g.3304457_3304461delinsTGCAG (hg19) ; chr16:g.3254457C>T (hg38)
• PubMed: PMID:19193696

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3254457C>T , CM000678.2:g.3254457C>T	GRCh38
NC_000016.9:g.3304457C>T , CM000678.1:g.3304457C>T	GRCh37
NC_000016.8:g.3244458C>T	NCBI36
NG_007871.1:g.7171G>A , LRG_190:g.7171G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.611G>A MANE Select	ENSP00000219596.1:p.Arg204His
ENST00000219596.5:c.611G>A	ENSP00000219596.1:p.Arg204His
ENST00000339854.8:c.277+1854G>A	ENSP00000339639.4:n.277+1854G>A
ENST00000536379.5:c.277+1854G>A	ENSP00000445079.1:n.277+1854G>A
ENST00000536980.5:c.277+1854G>A	ENSP00000444178.1:n.277+1854G>A
ENST00000537682.5:c.611G>A	ENSP00000438611.1:p.Arg204His
ENST00000538326.5:c.611G>A	ENSP00000437486.1:p.Arg204His
ENST00000539145.5:c.277+1854G>A	ENSP00000444471.1:n.277+1854G>A
ENST00000541159.5:c.277+1854G>A	ENSP00000438711.1:n.277+1854G>A
ENST00000542898.5:c.611G>A	ENSP00000444615.1:p.Arg204His
ENST00000570511.5:c.611G>A	ENSP00000458312.1:p.Arg204His
ENST00000572244.5:c.277+1854G>A	ENSP00000461186.1:n.277+1854G>A
ENST00000574583.5:c.277+1854G>A	ENSP00000460269.1:n.277+1854G>A
ENST00000576315.5:c.277+1854G>A	ENSP00000460551.1:n.277+1854G>A
ENST00000621655.1:c.277+1854G>A	ENSP00000481436.1:n.277+1854G>A
NM_000243.2:c.611G>A , LRG_190t1:c.611G>A	NP_000234.1:p.Arg204His
NM_001198536.1:c.277+1854G>A	NP_001185465.1:n.277+1854G>A
XM_017023236.2:c.611G>A	XP_016878725.1:p.Arg204His
XR_001751903.1:n.800G>A
NM_000243.3:c.611G>A MANE Select	NP_000234.1:p.Arg204His
NM_001198536.2:c.277+1854G>A	NP_001185465.2:n.277+1854G>A