Canonical Allele Identifier: CA2580573364

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1696111
• ClinVar RCV Id: RCV002266255

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.[3254626C>G;3254739A>G] , CM000678.2:g.[3254626C>G;3254739A>G]	GRCh38
NC_000016.9:g.[3304626C>G;3304739A>G] , CM000678.1:g.[3304626C>G;3304739A>G]	GRCh37
NC_000016.8:g.[3244627C>G;3244740A>G]	NCBI36
NG_007871.1:g.[6889T>C;7002G>C] , LRG_190:g.[6889T>C;7002G>C]

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.[329T>C;442G>C] MANE Select	ENSP00000219596.1:p.[Leu110Pro;Glu148Gln]...
ENST00000219596.5:c.[329T>C;442G>C]	ENSP00000219596.1:p.[Leu110Pro;Glu148Gln]...
ENST00000339854.8:c.[277+1572T>C;277+1685G>C]	ENSP00000339639.4:n.[277+1572T>C;277+1685...
ENST00000536379.5:c.[277+1572T>C;277+1685G>C]	ENSP00000445079.1:n.[277+1572T>C;277+1685...
ENST00000536980.5:c.[277+1572T>C;277+1685G>C]	ENSP00000444178.1:n.[277+1572T>C;277+1685...
ENST00000537682.5:c.[329T>C;442G>C]	ENSP00000438611.1:p.[Leu110Pro;Glu148Gln]...
ENST00000538326.5:c.[329T>C;442G>C]	ENSP00000437486.1:p.[Leu110Pro;Glu148Gln]...
ENST00000539145.5:c.[277+1572T>C;277+1685G>C]	ENSP00000444471.1:n.[277+1572T>C;277+1685...
ENST00000541159.5:c.[277+1572T>C;277+1685G>C]	ENSP00000438711.1:n.[277+1572T>C;277+1685...
ENST00000542898.5:c.[329T>C;442G>C]	ENSP00000444615.1:p.[Leu110Pro;Glu148Gln]...
ENST00000570511.5:c.[329T>C;442G>C]	ENSP00000458312.1:p.[Leu110Pro;Glu148Gln]...
ENST00000572244.5:c.[277+1572T>C;277+1685G>C]	ENSP00000461186.1:n.[277+1572T>C;277+1685...
ENST00000574583.5:c.[277+1572T>C;277+1685G>C]	ENSP00000460269.1:n.[277+1572T>C;277+1685...
ENST00000576315.5:c.[277+1572T>C;277+1685G>C]	ENSP00000460551.1:n.[277+1572T>C;277+1685...
ENST00000621655.1:c.[277+1572T>C;277+1685G>C]	ENSP00000481436.1:n.[277+1572T>C;277+1685...
NM_000243.2:c.[329T>C;442G>C] , LRG_190t1:c.[329T>C;442G>C]	NP_000234.1:p.[Leu110Pro;Glu148Gln]
NM_001198536.1:c.[277+1572T>C;277+1685G>C]	NP_001185465.1:n.[277+1572T>C;277+1685G>C...
XM_017023236.2:c.[329T>C;442G>C]	XP_016878725.1:p.[Leu110Pro;Glu148Gln]
XR_001751903.1:n.[518T>C;631G>C]
NM_000243.3:c.[329T>C;442G>C] MANE Select	NP_000234.1:p.[Leu110Pro;Glu148Gln]
NM_001198536.2:c.[277+1572T>C;277+1685G>C]	NP_001185465.2:n.[277+1572T>C;277+1685G>C...