Canonical Allele Identifier: CA656221866

Gene: MEFV

Linked Data

• dbSNP Id: rs1958877467
• gnomAD v3: 16-3242878-CA-C
• gnomAD v4: 16-3242878-CA-C
• COSMIC: COSN19198160

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242879del , CM000678.2:g.3242879del	GRCh38
NC_000016.9:g.3292879del , CM000678.1:g.3292879del	GRCh37
NC_000016.8:g.3232880del	NCBI36
NG_007871.1:g.18749del , LRG_190:g.18749del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1729del
ENST00000219596.6:c.*262del MANE Select	ENSP00000219596.1:n.*262del
ENST00000219596.5:c.*262del	ENSP00000219596.1:n.*262del
ENST00000339854.8:c.*262del	ENSP00000339639.4:n.*262del
ENST00000536980.5:c.*884del	ENSP00000444178.1:n.*884del
ENST00000537682.5:c.*884del	ENSP00000438611.1:n.*884del
ENST00000538326.5:c.*1233del	ENSP00000437486.1:n.*1233del
ENST00000542898.5:c.*884del	ENSP00000444615.1:n.*884del
NM_000243.2:c.*262del , LRG_190t1:c.*262del	NP_000234.1:n.*262del
NM_001198536.1:c.*812del	NP_001185465.1:n.*812del
NM_000243.3:c.*262del MANE Select	NP_000234.1:n.*262del
NM_001198536.2:c.*812del	NP_001185465.2:n.*812del