Canonical Allele Identifier: CA2631333347

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243126-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243126T>C , CM000678.2:g.3243126T>C	GRCh38
NC_000016.9:g.3293126T>C , CM000678.1:g.3293126T>C	GRCh37
NC_000016.8:g.3233127T>C	NCBI36
NG_007871.1:g.18502A>G , LRG_190:g.18502A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1482A>G
ENST00000219596.6:c.*15A>G MANE Select	ENSP00000219596.1:n.*15A>G
ENST00000219596.5:c.*15A>G	ENSP00000219596.1:n.*15A>G
ENST00000339854.8:c.*15A>G	ENSP00000339639.4:n.*15A>G
ENST00000536980.5:c.*637A>G	ENSP00000444178.1:n.*637A>G
ENST00000537682.5:c.*637A>G	ENSP00000438611.1:n.*637A>G
ENST00000538326.5:c.*986A>G	ENSP00000437486.1:n.*986A>G
ENST00000542898.5:c.*637A>G	ENSP00000444615.1:n.*637A>G
NM_000243.2:c.*15A>G , LRG_190t1:c.*15A>G	NP_000234.1:n.*15A>G
NM_001198536.1:c.*565A>G	NP_001185465.1:n.*565A>G
XM_017023236.2:c.*15A>G	XP_016878725.1:n.*15A>G
NM_000243.3:c.*15A>G MANE Select	NP_000234.1:n.*15A>G
NM_001198536.2:c.*565A>G	NP_001185465.2:n.*565A>G