Canonical Allele Identifier: CA394479140

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1482223
• ClinVar RCV Id: RCV001995528 ; RCV002264442 ; RCV003126069 ; RCV003126070
• dbSNP Id: rs1959084389
• gnomAD v3: 16-3254460-A-G
• gnomAD v4: 16-3254460-A-G
• MyVariant Identifiers: chr16:g.3304460A>G (hg19) ; chr16:g.3254460A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3254460A>G , CM000678.2:g.3254460A>G	GRCh38
NC_000016.9:g.3304460A>G , CM000678.1:g.3304460A>G	GRCh37
NC_000016.8:g.3244461A>G	NCBI36
NG_007871.1:g.7168T>C , LRG_190:g.7168T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.608T>C MANE Select	ENSP00000219596.1:p.Leu203Pro
ENST00000219596.5:c.608T>C	ENSP00000219596.1:p.Leu203Pro
ENST00000339854.8:c.277+1851T>C	ENSP00000339639.4:n.277+1851T>C
ENST00000536379.5:c.277+1851T>C	ENSP00000445079.1:n.277+1851T>C
ENST00000536980.5:c.277+1851T>C	ENSP00000444178.1:n.277+1851T>C
ENST00000537682.5:c.608T>C	ENSP00000438611.1:p.Leu203Pro
ENST00000538326.5:c.608T>C	ENSP00000437486.1:p.Leu203Pro
ENST00000539145.5:c.277+1851T>C	ENSP00000444471.1:n.277+1851T>C
ENST00000541159.5:c.277+1851T>C	ENSP00000438711.1:n.277+1851T>C
ENST00000542898.5:c.608T>C	ENSP00000444615.1:p.Leu203Pro
ENST00000570511.5:c.608T>C	ENSP00000458312.1:p.Leu203Pro
ENST00000572244.5:c.277+1851T>C	ENSP00000461186.1:n.277+1851T>C
ENST00000574583.5:c.277+1851T>C	ENSP00000460269.1:n.277+1851T>C
ENST00000576315.5:c.277+1851T>C	ENSP00000460551.1:n.277+1851T>C
ENST00000621655.1:c.277+1851T>C	ENSP00000481436.1:n.277+1851T>C
NM_000243.2:c.608T>C , LRG_190t1:c.608T>C	NP_000234.1:p.Leu203Pro
NM_001198536.1:c.277+1851T>C	NP_001185465.1:n.277+1851T>C
XM_017023236.2:c.608T>C	XP_016878725.1:p.Leu203Pro
XR_001751903.1:n.797T>C
NM_000243.3:c.608T>C MANE Select	NP_000234.1:p.Leu203Pro
NM_001198536.2:c.277+1851T>C	NP_001185465.2:n.277+1851T>C