Canonical Allele Identifier: CA2631333265

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243063-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243063A>G , CM000678.2:g.3243063A>G	GRCh38
NC_000016.9:g.3293063A>G , CM000678.1:g.3293063A>G	GRCh37
NC_000016.8:g.3233064A>G	NCBI36
NG_007871.1:g.18565T>C , LRG_190:g.18565T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1545T>C
ENST00000219596.6:c.*78T>C MANE Select	ENSP00000219596.1:n.*78T>C
ENST00000219596.5:c.*78T>C	ENSP00000219596.1:n.*78T>C
ENST00000339854.8:c.*78T>C	ENSP00000339639.4:n.*78T>C
ENST00000536980.5:c.*700T>C	ENSP00000444178.1:n.*700T>C
ENST00000537682.5:c.*700T>C	ENSP00000438611.1:n.*700T>C
ENST00000538326.5:c.*1049T>C	ENSP00000437486.1:n.*1049T>C
ENST00000542898.5:c.*700T>C	ENSP00000444615.1:n.*700T>C
NM_000243.2:c.*78T>C , LRG_190t1:c.*78T>C	NP_000234.1:n.*78T>C
NM_001198536.1:c.*628T>C	NP_001185465.1:n.*628T>C
NM_000243.3:c.*78T>C MANE Select	NP_000234.1:n.*78T>C
NM_001198536.2:c.*628T>C	NP_001185465.2:n.*628T>C