Canonical Allele Identifier: CA2631333227

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243043-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243046dup , CM000678.2:g.3243046dup	GRCh38
NC_000016.9:g.3293046dup , CM000678.1:g.3293046dup	GRCh37
NC_000016.8:g.3233047dup	NCBI36
NG_007871.1:g.18584dup , LRG_190:g.18584dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1564dup
ENST00000219596.6:c.*97dup MANE Select	ENSP00000219596.1:n.*97dup
ENST00000219596.5:c.*97dup	ENSP00000219596.1:n.*97dup
ENST00000339854.8:c.*97dup	ENSP00000339639.4:n.*97dup
ENST00000536980.5:c.*719dup	ENSP00000444178.1:n.*719dup
ENST00000537682.5:c.*719dup	ENSP00000438611.1:n.*719dup
ENST00000538326.5:c.*1068dup	ENSP00000437486.1:n.*1068dup
ENST00000542898.5:c.*719dup	ENSP00000444615.1:n.*719dup
NM_000243.2:c.*97dup , LRG_190t1:c.*97dup	NP_000234.1:n.*97dup
NM_001198536.1:c.*647dup	NP_001185465.1:n.*647dup
NM_000243.3:c.*97dup MANE Select	NP_000234.1:n.*97dup
NM_001198536.2:c.*647dup	NP_001185465.2:n.*647dup