Canonical Allele Identifier: CA280890

Gene: MEFV

Linked Data

• ClinVar Variation Id: 132873
• ClinVar RCV Id: RCV000119310
• dbSNP Id: rs483353018
• MyVariant Identifiers: chr16:g.3299679C>G (hg19) ; chr16:g.3249679C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3249679C>G , CM000678.2:g.3249679C>G	GRCh38
NC_000016.9:g.3299679C>G , CM000678.1:g.3299679C>G	GRCh37
NC_000016.8:g.3239680C>G	NCBI36
NG_007871.1:g.11949G>C , LRG_190:g.11949G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.1012G>C MANE Select	ENSP00000219596.1:p.Val338Leu
ENST00000219596.5:c.1012G>C	ENSP00000219596.1:p.Val338Leu
ENST00000339854.8:c.472G>C	ENSP00000339639.4:p.Val158Leu
ENST00000536379.5:c.379G>C	ENSP00000445079.1:p.Val127Leu
ENST00000536980.5:c.379G>C	ENSP00000444178.1:p.Val127Leu
ENST00000537682.5:c.1012G>C	ENSP00000438611.1:p.Val338Leu
ENST00000538326.5:c.1012G>C	ENSP00000437486.1:p.Val338Leu
ENST00000539145.5:c.278-2433G>C	ENSP00000444471.1:n.278-2433G>C
ENST00000541159.5:c.379G>C	ENSP00000438711.1:p.Val127Leu
ENST00000542898.5:c.1105G>C	ENSP00000444615.1:p.Val369Leu
ENST00000570511.5:c.911-2433G>C	ENSP00000458312.1:n.911-2433G>C
ENST00000572244.5:c.278-3132G>C	ENSP00000461186.1:n.278-3132G>C
ENST00000574583.5:c.278-2433G>C	ENSP00000460269.1:n.278-2433G>C
ENST00000576315.5:c.278-2433G>C	ENSP00000460551.1:n.278-2433G>C
ENST00000621655.1:c.379G>C	ENSP00000481436.1:p.Val127Leu
NM_000243.2:c.1012G>C , LRG_190t1:c.1012G>C	NP_000234.1:p.Val338Leu
NM_001198536.1:c.379G>C	NP_001185465.1:p.Val127Leu
XM_017023236.2:c.1012G>C	XP_016878725.1:p.Val338Leu
XR_001751903.1:n.1201G>C
NM_000243.3:c.1012G>C MANE Select	NP_000234.1:p.Val338Leu
NM_001198536.2:c.379G>C	NP_001185465.2:p.Val127Leu