Canonical Allele Identifier: CA276955083

Gene: MEFV

Linked Data

• ClinVar Variation Id: 2794773
• ClinVar RCV Id: RCV003603420
• dbSNP Id: rs778286164
• gnomAD v4: 16-3243357-T-C
• MyVariant Identifiers: chr16:g.3293357T>C (hg19) ; chr16:g.3243357T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243357T>C , CM000678.2:g.3243357T>C	GRCh38
NC_000016.9:g.3293357T>C , CM000678.1:g.3293357T>C	GRCh37
NC_000016.8:g.3233358T>C	NCBI36
NG_007871.1:g.18271A>G , LRG_190:g.18271A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1251A>G
ENST00000219596.6:c.2130A>G MANE Select	ENSP00000219596.1:p.Leu710=
ENST00000219596.5:c.2130A>G	ENSP00000219596.1:p.Leu710=
ENST00000339854.8:c.1590A>G	ENSP00000339639.4:p.Leu530=
ENST00000536379.5:c.1497A>G	ENSP00000445079.1:p.Leu499=
ENST00000536980.5:c.*406A>G	ENSP00000444178.1:n.*406A>G
ENST00000537682.5:c.*406A>G	ENSP00000438611.1:n.*406A>G
ENST00000538326.5:c.*755A>G	ENSP00000437486.1:n.*755A>G
ENST00000539145.5:c.1051A>G	ENSP00000444471.1:n.1051A>G
ENST00000541159.5:c.1672A>G	ENSP00000438711.1:n.1672A>G
ENST00000542898.5:c.*406A>G	ENSP00000444615.1:n.*406A>G
ENST00000570511.5:c.1535A>G	ENSP00000458312.1:n.1535A>G
ENST00000572244.5:c.820A>G	ENSP00000461186.1:n.820A>G
ENST00000574583.5:c.902A>G	ENSP00000460269.1:n.902A>G
ENST00000576315.5:c.935A>G	ENSP00000460551.1:n.935A>G
ENST00000621655.1:c.1667A>G	ENSP00000481436.1:n.1667A>G
NM_000243.2:c.2130A>G , LRG_190t1:c.2130A>G	NP_000234.1:p.Leu710=
NM_001198536.1:c.*334A>G	NP_001185465.1:n.*334A>G
XM_017023236.2:c.2127A>G	XP_016878725.1:p.Leu709=
NM_000243.3:c.2130A>G MANE Select	NP_000234.1:p.Leu710=
NM_001198536.2:c.*334A>G	NP_001185465.2:n.*334A>G