Canonical Allele Identifier: CA7859862

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1925442
• ClinVar RCV Id: RCV002625993
• dbSNP Id: rs104895201
• ExAC: 16:3293323 C / G
• gnomAD v2: 16-3293323-C-G
• gnomAD v3: 16-3243323-C-G
• gnomAD v4: 16-3243323-C-G
• MyVariant Identifiers: chr16:g.3293323C>G (hg19) ; chr16:g.3243323C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243323C>G , CM000678.2:g.3243323C>G	GRCh38
NC_000016.9:g.3293323C>G , CM000678.1:g.3293323C>G	GRCh37
NC_000016.8:g.3233324C>G	NCBI36
NG_007871.1:g.18305G>C , LRG_190:g.18305G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1285G>C
ENST00000219596.6:c.2164G>C MANE Select	ENSP00000219596.1:p.Val722Leu
ENST00000219596.5:c.2164G>C	ENSP00000219596.1:p.Val722Leu
ENST00000339854.8:c.1624G>C	ENSP00000339639.4:p.Val542Leu
ENST00000536379.5:c.1531G>C	ENSP00000445079.1:p.Val511Leu
ENST00000536980.5:c.*440G>C	ENSP00000444178.1:n.*440G>C
ENST00000537682.5:c.*440G>C	ENSP00000438611.1:n.*440G>C
ENST00000538326.5:c.*789G>C	ENSP00000437486.1:n.*789G>C
ENST00000539145.5:c.1085G>C	ENSP00000444471.1:n.1085G>C
ENST00000541159.5:c.1706G>C	ENSP00000438711.1:n.1706G>C
ENST00000542898.5:c.*440G>C	ENSP00000444615.1:n.*440G>C
ENST00000570511.5:c.1569G>C	ENSP00000458312.1:n.1569G>C
ENST00000572244.5:c.854G>C	ENSP00000461186.1:n.854G>C
ENST00000574583.5:c.936G>C	ENSP00000460269.1:n.936G>C
ENST00000576315.5:c.969G>C	ENSP00000460551.1:n.969G>C
ENST00000621655.1:c.1701G>C	ENSP00000481436.1:n.1701G>C
NM_000243.2:c.2164G>C , LRG_190t1:c.2164G>C	NP_000234.1:p.Val722Leu
NM_001198536.1:c.*368G>C	NP_001185465.1:n.*368G>C
XM_017023236.2:c.2161G>C	XP_016878725.1:p.Val721Leu
NM_000243.3:c.2164G>C MANE Select	NP_000234.1:p.Val722Leu
NM_001198536.2:c.*368G>C	NP_001185465.2:n.*368G>C