Canonical Allele Identifier: CA394485413

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293298G>T (hg19) ; chr16:g.3243298G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243298G>T , CM000678.2:g.3243298G>T	GRCh38
NC_000016.9:g.3293298G>T , CM000678.1:g.3293298G>T	GRCh37
NC_000016.8:g.3233299G>T	NCBI36
NG_007871.1:g.18330C>A , LRG_190:g.18330C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1310C>A
ENST00000219596.6:c.2189C>A MANE Select	ENSP00000219596.1:p.Ser730Tyr
ENST00000219596.5:c.2189C>A	ENSP00000219596.1:p.Ser730Tyr
ENST00000339854.8:c.1649C>A	ENSP00000339639.4:p.Ser550Tyr
ENST00000536379.5:c.1556C>A	ENSP00000445079.1:p.Ser519Tyr
ENST00000536980.5:c.*465C>A	ENSP00000444178.1:n.*465C>A
ENST00000537682.5:c.*465C>A	ENSP00000438611.1:n.*465C>A
ENST00000538326.5:c.*814C>A	ENSP00000437486.1:n.*814C>A
ENST00000539145.5:c.1110C>A	ENSP00000444471.1:n.1110C>A
ENST00000541159.5:c.1731C>A	ENSP00000438711.1:n.1731C>A
ENST00000542898.5:c.*465C>A	ENSP00000444615.1:n.*465C>A
ENST00000570511.5:c.1594C>A	ENSP00000458312.1:n.1594C>A
ENST00000572244.5:c.879C>A	ENSP00000461186.1:n.879C>A
ENST00000574583.5:c.961C>A	ENSP00000460269.1:n.961C>A
ENST00000576315.5:c.994C>A	ENSP00000460551.1:n.994C>A
ENST00000621655.1:c.1726C>A	ENSP00000481436.1:n.1726C>A
NM_000243.2:c.2189C>A , LRG_190t1:c.2189C>A	NP_000234.1:p.Ser730Tyr
NM_001198536.1:c.*393C>A	NP_001185465.1:n.*393C>A
XM_017023236.2:c.2186C>A	XP_016878725.1:p.Ser729Tyr
NM_000243.3:c.2189C>A MANE Select	NP_000234.1:p.Ser730Tyr
NM_001198536.2:c.*393C>A	NP_001185465.2:n.*393C>A