Canonical Allele Identifier: CA493383694

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293345A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243345A>G , CM000678.2:g.3243345A>G	GRCh38
NC_000016.9:g.3293345A>G , CM000678.1:g.3293345A>G	GRCh37
NC_000016.8:g.3233346A>G	NCBI36
NG_007871.1:g.18283T>C , LRG_190:g.18283T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1263T>C
ENST00000219596.6:c.2142T>C MANE Select	ENSP00000219596.1:p.Pro714=
ENST00000219596.5:c.2142T>C	ENSP00000219596.1:p.Pro714=
ENST00000339854.8:c.1602T>C	ENSP00000339639.4:p.Pro534=
ENST00000536379.5:c.1509T>C	ENSP00000445079.1:p.Pro503=
ENST00000536980.5:c.*418T>C	ENSP00000444178.1:n.*418T>C
ENST00000537682.5:c.*418T>C	ENSP00000438611.1:n.*418T>C
ENST00000538326.5:c.*767T>C	ENSP00000437486.1:n.*767T>C
ENST00000539145.5:c.1063T>C	ENSP00000444471.1:n.1063T>C
ENST00000541159.5:c.1684T>C	ENSP00000438711.1:n.1684T>C
ENST00000542898.5:c.*418T>C	ENSP00000444615.1:n.*418T>C
ENST00000570511.5:c.1547T>C	ENSP00000458312.1:n.1547T>C
ENST00000572244.5:c.832T>C	ENSP00000461186.1:n.832T>C
ENST00000574583.5:c.914T>C	ENSP00000460269.1:n.914T>C
ENST00000576315.5:c.947T>C	ENSP00000460551.1:n.947T>C
ENST00000621655.1:c.1679T>C	ENSP00000481436.1:n.1679T>C
NM_000243.2:c.2142T>C , LRG_190t1:c.2142T>C	NP_000234.1:p.Pro714=
NM_001198536.1:c.*346T>C	NP_001185465.1:n.*346T>C
XM_017023236.2:c.2139T>C	XP_016878725.1:p.Pro713=
NM_000243.3:c.2142T>C MANE Select	NP_000234.1:p.Pro714=
NM_001198536.2:c.*346T>C	NP_001185465.2:n.*346T>C