Canonical Allele Identifier: CA720023979

Gene: MEFV

Linked Data

• dbSNP Id: rs1417867395
• gnomAD v3: 16-3243040-A-G
• gnomAD v4: 16-3243040-A-G
• MyVariant Identifiers: chr16:g.3293040A>G (hg19) ; chr16:g.3243040A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243040A>G , CM000678.2:g.3243040A>G	GRCh38
NC_000016.9:g.3293040A>G , CM000678.1:g.3293040A>G	GRCh37
NC_000016.8:g.3233041A>G	NCBI36
NG_007871.1:g.18588T>C , LRG_190:g.18588T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1568T>C
ENST00000219596.6:c.*101T>C MANE Select	ENSP00000219596.1:n.*101T>C
ENST00000219596.5:c.*101T>C	ENSP00000219596.1:n.*101T>C
ENST00000339854.8:c.*101T>C	ENSP00000339639.4:n.*101T>C
ENST00000536980.5:c.*723T>C	ENSP00000444178.1:n.*723T>C
ENST00000537682.5:c.*723T>C	ENSP00000438611.1:n.*723T>C
ENST00000538326.5:c.*1072T>C	ENSP00000437486.1:n.*1072T>C
ENST00000542898.5:c.*723T>C	ENSP00000444615.1:n.*723T>C
NM_000243.2:c.*101T>C , LRG_190t1:c.*101T>C	NP_000234.1:n.*101T>C
NM_001198536.1:c.*651T>C	NP_001185465.1:n.*651T>C
NM_000243.3:c.*101T>C MANE Select	NP_000234.1:n.*101T>C
NM_001198536.2:c.*651T>C	NP_001185465.2:n.*651T>C