Canonical Allele Identifier: CA394488918

Gene: MEFV

Linked Data

• COSMIC: COSM3690719 ; COSM3690720
• MyVariant Identifiers: chr16:g.3293880A>C (hg19) ; chr16:g.3243880A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243880A>C , CM000678.2:g.3243880A>C	GRCh38
NC_000016.9:g.3293880A>C , CM000678.1:g.3293880A>C	GRCh37
NC_000016.8:g.3233881A>C	NCBI36
NG_007871.1:g.17748T>G , LRG_190:g.17748T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.893T>G
ENST00000219596.6:c.1772T>G MANE Select	ENSP00000219596.1:p.Ile591Ser
ENST00000219596.5:c.1772T>G	ENSP00000219596.1:p.Ile591Ser
ENST00000339854.8:c.1232T>G	ENSP00000339639.4:p.Ile411Ser
ENST00000536379.5:c.1139T>G	ENSP00000445079.1:p.Ile380Ser
ENST00000536980.5:c.*48T>G	ENSP00000444178.1:n.*48T>G
ENST00000537682.5:c.*48T>G	ENSP00000438611.1:n.*48T>G
ENST00000538326.5:c.*397T>G	ENSP00000437486.1:n.*397T>G
ENST00000539145.5:c.693T>G	ENSP00000444471.1:n.693T>G
ENST00000541159.5:c.1314T>G	ENSP00000438711.1:p.Asp438Glu
ENST00000542898.5:c.*48T>G	ENSP00000444615.1:n.*48T>G
ENST00000570511.5:c.1177T>G	ENSP00000458312.1:n.1177T>G
ENST00000572244.5:c.462T>G	ENSP00000461186.1:n.462T>G
ENST00000574583.5:c.544T>G	ENSP00000460269.1:n.544T>G
ENST00000576315.5:c.577T>G	ENSP00000460551.1:n.577T>G
ENST00000621655.1:c.1309T>G	ENSP00000481436.1:n.1309T>G
NM_000243.2:c.1772T>G , LRG_190t1:c.1772T>G	NP_000234.1:p.Ile591Ser
NM_001198536.1:c.1314T>G	NP_001185465.1:p.Asp438Glu
XM_017023236.2:c.1769T>G	XP_016878725.1:p.Ile590Ser
XR_001751903.1:n.2079T>G
NM_000243.3:c.1772T>G MANE Select	NP_000234.1:p.Ile591Ser
NM_001198536.2:c.1314T>G	NP_001185465.2:p.Asp438Glu