Canonical Allele Identifier: CA7859883

Gene: MEFV

Linked Data

• dbSNP Id: rs771759703
• ExAC: 16:3293455 C / G
• gnomAD v2: 16-3293455-C-G
• gnomAD v4: 16-3243455-C-G
• MyVariant Identifiers: chr16:g.3293455C>G (hg19) ; chr16:g.3243455C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243455C>G , CM000678.2:g.3243455C>G	GRCh38
NC_000016.9:g.3293455C>G , CM000678.1:g.3293455C>G	GRCh37
NC_000016.8:g.3233456C>G	NCBI36
NG_007871.1:g.18173G>C , LRG_190:g.18173G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1153G>C
ENST00000219596.6:c.2032G>C MANE Select	ENSP00000219596.1:p.Gly678Arg
ENST00000219596.5:c.2032G>C	ENSP00000219596.1:p.Gly678Arg
ENST00000339854.8:c.1492G>C	ENSP00000339639.4:p.Gly498Arg
ENST00000536379.5:c.1399G>C	ENSP00000445079.1:p.Gly467Arg
ENST00000536980.5:c.*308G>C	ENSP00000444178.1:n.*308G>C
ENST00000537682.5:c.*308G>C	ENSP00000438611.1:n.*308G>C
ENST00000538326.5:c.*657G>C	ENSP00000437486.1:n.*657G>C
ENST00000539145.5:c.953G>C	ENSP00000444471.1:n.953G>C
ENST00000541159.5:c.1574G>C	ENSP00000438711.1:n.1574G>C
ENST00000542898.5:c.*308G>C	ENSP00000444615.1:n.*308G>C
ENST00000570511.5:c.1437G>C	ENSP00000458312.1:n.1437G>C
ENST00000572244.5:c.722G>C	ENSP00000461186.1:n.722G>C
ENST00000574583.5:c.804G>C	ENSP00000460269.1:n.804G>C
ENST00000576315.5:c.837G>C	ENSP00000460551.1:n.837G>C
ENST00000621655.1:c.1569G>C	ENSP00000481436.1:n.1569G>C
NM_000243.2:c.2032G>C , LRG_190t1:c.2032G>C	NP_000234.1:p.Gly678Arg
NM_001198536.1:c.*236G>C	NP_001185465.1:n.*236G>C
XM_017023236.2:c.2029G>C	XP_016878725.1:p.Gly677Arg
NM_000243.3:c.2032G>C MANE Select	NP_000234.1:p.Gly678Arg
NM_001198536.2:c.*236G>C	NP_001185465.2:n.*236G>C