Canonical Allele Identifier: CA394484966

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293242A>C (hg19) ; chr16:g.3243242A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243242A>C , CM000678.2:g.3243242A>C	GRCh38
NC_000016.9:g.3293242A>C , CM000678.1:g.3293242A>C	GRCh37
NC_000016.8:g.3233243A>C	NCBI36
NG_007871.1:g.18386T>G , LRG_190:g.18386T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1366T>G
ENST00000219596.6:c.2245T>G MANE Select	ENSP00000219596.1:p.Ser749Ala
ENST00000219596.5:c.2245T>G	ENSP00000219596.1:p.Ser749Ala
ENST00000339854.8:c.1705T>G	ENSP00000339639.4:p.Ser569Ala
ENST00000536379.5:c.1612T>G	ENSP00000445079.1:p.Ser538Ala
ENST00000536980.5:c.*521T>G	ENSP00000444178.1:n.*521T>G
ENST00000537682.5:c.*521T>G	ENSP00000438611.1:n.*521T>G
ENST00000538326.5:c.*870T>G	ENSP00000437486.1:n.*870T>G
ENST00000539145.5:c.1166T>G	ENSP00000444471.1:n.1166T>G
ENST00000541159.5:c.1787T>G	ENSP00000438711.1:n.1787T>G
ENST00000542898.5:c.*521T>G	ENSP00000444615.1:n.*521T>G
ENST00000570511.5:c.1650T>G	ENSP00000458312.1:n.1650T>G
ENST00000572244.5:c.935T>G	ENSP00000461186.1:n.935T>G
ENST00000574583.5:c.1017T>G	ENSP00000460269.1:n.1017T>G
ENST00000576315.5:c.1050T>G	ENSP00000460551.1:n.1050T>G
ENST00000621655.1:c.1782T>G	ENSP00000481436.1:n.1782T>G
NM_000243.2:c.2245T>G , LRG_190t1:c.2245T>G	NP_000234.1:p.Ser749Ala
NM_001198536.1:c.*449T>G	NP_001185465.1:n.*449T>G
XM_017023236.2:c.2242T>G	XP_016878725.1:p.Ser748Ala
NM_000243.3:c.2245T>G MANE Select	NP_000234.1:p.Ser749Ala
NM_001198536.2:c.*449T>G	NP_001185465.2:n.*449T>G