Canonical Allele Identifier: CA2631333345

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243125-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243125A>G , CM000678.2:g.3243125A>G	GRCh38
NC_000016.9:g.3293125A>G , CM000678.1:g.3293125A>G	GRCh37
NC_000016.8:g.3233126A>G	NCBI36
NG_007871.1:g.18503T>C , LRG_190:g.18503T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1483T>C
ENST00000219596.6:c.*16T>C MANE Select	ENSP00000219596.1:n.*16T>C
ENST00000219596.5:c.*16T>C	ENSP00000219596.1:n.*16T>C
ENST00000339854.8:c.*16T>C	ENSP00000339639.4:n.*16T>C
ENST00000536980.5:c.*638T>C	ENSP00000444178.1:n.*638T>C
ENST00000537682.5:c.*638T>C	ENSP00000438611.1:n.*638T>C
ENST00000538326.5:c.*987T>C	ENSP00000437486.1:n.*987T>C
ENST00000542898.5:c.*638T>C	ENSP00000444615.1:n.*638T>C
NM_000243.2:c.*16T>C , LRG_190t1:c.*16T>C	NP_000234.1:n.*16T>C
NM_001198536.1:c.*566T>C	NP_001185465.1:n.*566T>C
XM_017023236.2:c.*16T>C	XP_016878725.1:n.*16T>C
NM_000243.3:c.*16T>C MANE Select	NP_000234.1:n.*16T>C
NM_001198536.2:c.*566T>C	NP_001185465.2:n.*566T>C