Canonical Allele Identifier: CA2631332859

Gene: MEFV

Linked Data

• gnomAD v4: 16-3242893-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242893C>A , CM000678.2:g.3242893C>A	GRCh38
NC_000016.9:g.3292893C>A , CM000678.1:g.3292893C>A	GRCh37
NC_000016.8:g.3232894C>A	NCBI36
NG_007871.1:g.18735G>T , LRG_190:g.18735G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1715G>T
ENST00000219596.6:c.*248G>T MANE Select	ENSP00000219596.1:n.*248G>T
ENST00000219596.5:c.*248G>T	ENSP00000219596.1:n.*248G>T
ENST00000339854.8:c.*248G>T	ENSP00000339639.4:n.*248G>T
ENST00000536980.5:c.*870G>T	ENSP00000444178.1:n.*870G>T
ENST00000537682.5:c.*870G>T	ENSP00000438611.1:n.*870G>T
ENST00000538326.5:c.*1219G>T	ENSP00000437486.1:n.*1219G>T
ENST00000542898.5:c.*870G>T	ENSP00000444615.1:n.*870G>T
NM_000243.2:c.*248G>T , LRG_190t1:c.*248G>T	NP_000234.1:n.*248G>T
NM_001198536.1:c.*798G>T	NP_001185465.1:n.*798G>T
NM_000243.3:c.*248G>T MANE Select	NP_000234.1:n.*248G>T
NM_001198536.2:c.*798G>T	NP_001185465.2:n.*798G>T