Canonical Allele Identifier: CA973870181

Gene: MEFV

Linked Data

• dbSNP Id: rs1958879747
• gnomAD v3: 16-3243041-T-C
• gnomAD v4: 16-3243041-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243041T>C , CM000678.2:g.3243041T>C	GRCh38
NC_000016.9:g.3293041T>C , CM000678.1:g.3293041T>C	GRCh37
NC_000016.8:g.3233042T>C	NCBI36
NG_007871.1:g.18587A>G , LRG_190:g.18587A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1567A>G
ENST00000219596.6:c.*100A>G MANE Select	ENSP00000219596.1:n.*100A>G
ENST00000219596.5:c.*100A>G	ENSP00000219596.1:n.*100A>G
ENST00000339854.8:c.*100A>G	ENSP00000339639.4:n.*100A>G
ENST00000536980.5:c.*722A>G	ENSP00000444178.1:n.*722A>G
ENST00000537682.5:c.*722A>G	ENSP00000438611.1:n.*722A>G
ENST00000538326.5:c.*1071A>G	ENSP00000437486.1:n.*1071A>G
ENST00000542898.5:c.*722A>G	ENSP00000444615.1:n.*722A>G
NM_000243.2:c.*100A>G , LRG_190t1:c.*100A>G	NP_000234.1:n.*100A>G
NM_001198536.1:c.*650A>G	NP_001185465.1:n.*650A>G
NM_000243.3:c.*100A>G MANE Select	NP_000234.1:n.*100A>G
NM_001198536.2:c.*650A>G	NP_001185465.2:n.*650A>G