Canonical Allele Identifier: CA973875033

Gene: MEFV

Linked Data

• dbSNP Id: rs1958878644
• gnomAD v3: 16-3242941-CAT-C
• gnomAD v4: 16-3242941-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242942_3242943del , CM000678.2:g.3242942_3242943del	GRCh38
NC_000016.9:g.3292942_3292943del , CM000678.1:g.3292942_3292943del	GRCh37
NC_000016.8:g.3232943_3232944del	NCBI36
NG_007871.1:g.18685_18686del , LRG_190:g.18685_18686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1665_1666del
ENST00000219596.6:c.*198_*199del MANE Select	ENSP00000219596.1:n.*198_*199del
ENST00000219596.5:c.*198_*199del	ENSP00000219596.1:n.*198_*199del
ENST00000339854.8:c.*198_*199del	ENSP00000339639.4:n.*198_*199del
ENST00000536980.5:c.*820_*821del	ENSP00000444178.1:n.*820_*821del
ENST00000537682.5:c.*820_*821del	ENSP00000438611.1:n.*820_*821del
ENST00000538326.5:c.*1169_*1170del	ENSP00000437486.1:n.*1169_*1170del
ENST00000542898.5:c.*820_*821del	ENSP00000444615.1:n.*820_*821del
NM_000243.2:c.*198_*199del , LRG_190t1:c.*198_*199del	NP_000234.1:n.*198_*199del
NM_001198536.1:c.*748_*749del	NP_001185465.1:n.*748_*749del
NM_000243.3:c.*198_*199del MANE Select	NP_000234.1:n.*198_*199del
NM_001198536.2:c.*748_*749del	NP_001185465.2:n.*748_*749del