Canonical Allele Identifier: CA658760339

Gene: MEFV

Linked Data

• PubMed: PMID:9668175 ; PMID:10364520 ; PMID:12180071 ; PMID:19863562 ; PMID:25393764

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.[3247166G>C;3254567C>G] , CM000678.2:g.[3247166G>C;3254567C>G]	GRCh38
NC_000016.9:g.[3297166G>C;3304567C>G] , CM000678.1:g.[3297166G>C;3304567C>G]	GRCh37
NC_000016.8:g.[3237167G>C;3244568C>G]	NCBI36
NG_007871.1:g.[7061G>C;14462C>G] , LRG_190:g.[7061G>C;14462C>G]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.[501G>C;1437C>G] MANE Select	ENSP00000219596.1:p.[Glu167Asp;Phe479Leu]
ENST00000219596.5:c.[501G>C;1437C>G]	ENSP00000219596.1:p.[Glu167Asp;Phe479Leu]
ENST00000339854.8:c.[277+1744G>C;897C>G]	ENSP00000339639.4:p.Phe299Leu
ENST00000536379.5:c.[277+1744G>C;804C>G]	ENSP00000445079.1:p.Phe268Leu
ENST00000536980.5:c.[277+1744G>C;804C>G]	ENSP00000444178.1:p.Phe268Leu
ENST00000537682.5:c.[501G>C;1437C>G]	ENSP00000438611.1:p.[Glu167Asp;Phe479Leu]
ENST00000538326.5:c.[501G>C;*62C>G]	ENSP00000437486.1:[p.Glu167Asp;n.*62C>G]
ENST00000539145.5:c.[277+1744G>C;358C>G]	ENSP00000444471.1:n.[277+1744G>C;358C>G]
ENST00000541159.5:c.[277+1744G>C;804C>G]	ENSP00000438711.1:p.Phe268Leu
ENST00000542898.5:c.[501G>C;1530C>G]	ENSP00000444615.1:p.[Glu167Asp;Phe510Leu]
ENST00000570511.5:c.[501G>C;991C>G]	ENSP00000458312.1:[p.Glu167Asp;n.991C>G]
ENST00000572244.5:c.[277+1744G>C;278-619C>G]	ENSP00000461186.1:n.[277+1744G>C;278-619C>G]
ENST00000574583.5:c.[277+1744G>C;358C>G]	ENSP00000460269.1:n.[277+1744G>C;358C>G]
ENST00000576315.5:c.[277+1744G>C;358C>G]	ENSP00000460551.1:n.[277+1744G>C;358C>G]
ENST00000621655.1:c.[277+1744G>C;804C>G]	ENSP00000481436.1:p.Phe268Leu
NM_000243.2:c.[501G>C;1437C>G] , LRG_190t1:c.[501G>C;1437C>G]	NP_000234.1:p.[Glu167Asp;Phe479Leu]
NM_001198536.1:c.[277+1744G>C;804C>G]	NP_001185465.1:p.Phe268Leu
XM_017023236.2:c.[501G>C;1434C>G]	XP_016878725.1:p.[Glu167Asp;Phe478Leu]
XR_001751903.1:n.[690G>C;1626C>G]
NM_000243.3:c.[501G>C;1437C>G] MANE Select	NP_000234.1:p.[Glu167Asp;Phe479Leu]
NM_001198536.2:c.[277+1744G>C;804C>G]	NP_001185465.2:p.Phe268Leu