Canonical Allele Identifier: CA280569

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97510
• ClinVar RCV Id: RCV000083762 ; RCV001704008 ; RCV002444555 ; RCV003126466 ; RCV003126465
• dbSNP Id: rs104895153
• ExAC: 16:3293150 C / G
• gnomAD v2: 16-3293150-C-G
• gnomAD v3: 16-3243150-C-G
• gnomAD v4: 16-3243150-C-G
• MyVariant Identifiers: chr16:g.3293150C>G (hg19) ; chr16:g.3243150C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243150C>G , CM000678.2:g.3243150C>G	GRCh38
NC_000016.9:g.3293150C>G , CM000678.1:g.3293150C>G	GRCh37
NC_000016.8:g.3233151C>G	NCBI36
NG_007871.1:g.18478G>C , LRG_190:g.18478G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1458G>C
ENST00000219596.6:c.2337G>C MANE Select	ENSP00000219596.1:p.Gly779=
ENST00000219596.5:c.2337G>C	ENSP00000219596.1:p.Gly779=
ENST00000339854.8:c.1797G>C	ENSP00000339639.4:p.Gly599=
ENST00000536379.5:c.1704G>C	ENSP00000445079.1:p.Gly568=
ENST00000536980.5:c.*613G>C	ENSP00000444178.1:n.*613G>C
ENST00000537682.5:c.*613G>C	ENSP00000438611.1:n.*613G>C
ENST00000538326.5:c.*962G>C	ENSP00000437486.1:n.*962G>C
ENST00000539145.5:c.1258G>C	ENSP00000444471.1:n.1258G>C
ENST00000541159.5:c.1879G>C	ENSP00000438711.1:n.1879G>C
ENST00000542898.5:c.*613G>C	ENSP00000444615.1:n.*613G>C
ENST00000570511.5:c.1742G>C	ENSP00000458312.1:n.1742G>C
ENST00000572244.5:c.1027G>C	ENSP00000461186.1:n.1027G>C
ENST00000574583.5:c.1109G>C	ENSP00000460269.1:n.1109G>C
ENST00000576315.5:c.1142G>C	ENSP00000460551.1:n.1142G>C
ENST00000621655.1:c.1874G>C	ENSP00000481436.1:n.1874G>C
NM_000243.2:c.2337G>C , LRG_190t1:c.2337G>C	NP_000234.1:p.Gly779=
NM_001198536.1:c.*541G>C	NP_001185465.1:n.*541G>C
XM_017023236.2:c.2334G>C	XP_016878725.1:p.Gly778=
NM_000243.3:c.2337G>C MANE Select	NP_000234.1:p.Gly779=
NM_001198536.2:c.*541G>C	NP_001185465.2:n.*541G>C