Canonical Allele Identifier: CA10648321

Gene: MEFV

Linked Data

• ClinVar Variation Id: 319095
• ClinVar RCV Id: RCV000294923
• dbSNP Id: rs886051969
• gnomAD v3: 16-3242462-G-C
• gnomAD v4: 16-3242462-G-C
• MyVariant Identifiers: chr16:g.3292462G>C (hg19) ; chr16:g.3242462G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242462G>C , CM000678.2:g.3242462G>C	GRCh38
NC_000016.9:g.3292462G>C , CM000678.1:g.3292462G>C	GRCh37
NC_000016.8:g.3232463G>C	NCBI36
NG_007871.1:g.19166C>G , LRG_190:g.19166C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.*679C>G MANE Select	ENSP00000219596.1:n.*679C>G
ENST00000219596.5:c.*679C>G	ENSP00000219596.1:n.*679C>G
ENST00000339854.8:c.*679C>G	ENSP00000339639.4:n.*679C>G
ENST00000536980.5:c.*1301C>G	ENSP00000444178.1:n.*1301C>G
ENST00000537682.5:c.*1301C>G	ENSP00000438611.1:n.*1301C>G
ENST00000538326.5:c.*1650C>G	ENSP00000437486.1:n.*1650C>G
ENST00000542898.5:c.*1301C>G	ENSP00000444615.1:n.*1301C>G
NM_000243.2:c.*679C>G , LRG_190t1:c.*679C>G	NP_000234.1:n.*679C>G
NM_001198536.1:c.*1229C>G	NP_001185465.1:n.*1229C>G
NM_000243.3:c.*679C>G MANE Select	NP_000234.1:n.*679C>G
NM_001198536.2:c.*1229C>G	NP_001185465.2:n.*1229C>G