Canonical Allele Identifier: CA280514

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97490
• ClinVar RCV Id: RCV000083742 ; RCV001001442
• dbSNP Id: rs104895208
• ExAC: 16:3293402 C / G
• gnomAD v2: 16-3293402-C-G
• gnomAD v4: 16-3243402-C-G
• MyVariant Identifiers: chr16:g.3293402C>G (hg19) ; chr16:g.3243402C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243402C>G , CM000678.2:g.3243402C>G	GRCh38
NC_000016.9:g.3293402C>G , CM000678.1:g.3293402C>G	GRCh37
NC_000016.8:g.3233403C>G	NCBI36
NG_007871.1:g.18226G>C , LRG_190:g.18226G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1206G>C
ENST00000219596.6:c.2085G>C MANE Select	ENSP00000219596.1:p.Lys695Asn
ENST00000219596.5:c.2085G>C	ENSP00000219596.1:p.Lys695Asn
ENST00000339854.8:c.1545G>C	ENSP00000339639.4:p.Lys515Asn
ENST00000536379.5:c.1452G>C	ENSP00000445079.1:p.Lys484Asn
ENST00000536980.5:c.*361G>C	ENSP00000444178.1:n.*361G>C
ENST00000537682.5:c.*361G>C	ENSP00000438611.1:n.*361G>C
ENST00000538326.5:c.*710G>C	ENSP00000437486.1:n.*710G>C
ENST00000539145.5:c.1006G>C	ENSP00000444471.1:n.1006G>C
ENST00000541159.5:c.1627G>C	ENSP00000438711.1:n.1627G>C
ENST00000542898.5:c.*361G>C	ENSP00000444615.1:n.*361G>C
ENST00000570511.5:c.1490G>C	ENSP00000458312.1:n.1490G>C
ENST00000572244.5:c.775G>C	ENSP00000461186.1:n.775G>C
ENST00000574583.5:c.857G>C	ENSP00000460269.1:n.857G>C
ENST00000576315.5:c.890G>C	ENSP00000460551.1:n.890G>C
ENST00000621655.1:c.1622G>C	ENSP00000481436.1:n.1622G>C
NM_000243.2:c.2085G>C , LRG_190t1:c.2085G>C	NP_000234.1:p.Lys695Asn
NM_001198536.1:c.*289G>C	NP_001185465.1:n.*289G>C
XM_017023236.2:c.2082G>C	XP_016878725.1:p.Lys694Asn
NM_000243.3:c.2085G>C MANE Select	NP_000234.1:p.Lys695Asn
NM_001198536.2:c.*289G>C	NP_001185465.2:n.*289G>C