Canonical Allele Identifier: CA2202658399

Gene: MEFV

Linked Data

• dbSNP Id: rs1596349574
• gnomAD v4: 16-3242942-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242942A>G , CM000678.2:g.3242942A>G	GRCh38
NC_000016.9:g.3292942A>G , CM000678.1:g.3292942A>G	GRCh37
NC_000016.8:g.3232943A>G	NCBI36
NG_007871.1:g.18686T>C , LRG_190:g.18686T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1666T>C
ENST00000219596.6:c.*199T>C MANE Select	ENSP00000219596.1:n.*199T>C
ENST00000219596.5:c.*199T>C	ENSP00000219596.1:n.*199T>C
ENST00000339854.8:c.*199T>C	ENSP00000339639.4:n.*199T>C
ENST00000536980.5:c.*821T>C	ENSP00000444178.1:n.*821T>C
ENST00000537682.5:c.*821T>C	ENSP00000438611.1:n.*821T>C
ENST00000538326.5:c.*1170T>C	ENSP00000437486.1:n.*1170T>C
ENST00000542898.5:c.*821T>C	ENSP00000444615.1:n.*821T>C
NM_000243.2:c.*199T>C , LRG_190t1:c.*199T>C	NP_000234.1:n.*199T>C
NM_001198536.1:c.*749T>C	NP_001185465.1:n.*749T>C
NM_000243.3:c.*199T>C MANE Select	NP_000234.1:n.*199T>C
NM_001198536.2:c.*749T>C	NP_001185465.2:n.*749T>C