Canonical Allele Identifier: CA394485962

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293383A>G (hg19) ; chr16:g.3243383A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243383A>G , CM000678.2:g.3243383A>G	GRCh38
NC_000016.9:g.3293383A>G , CM000678.1:g.3293383A>G	GRCh37
NC_000016.8:g.3233384A>G	NCBI36
NG_007871.1:g.18245T>C , LRG_190:g.18245T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1225T>C
ENST00000219596.6:c.2104T>C MANE Select	ENSP00000219596.1:p.Ser702Pro
ENST00000219596.5:c.2104T>C	ENSP00000219596.1:p.Ser702Pro
ENST00000339854.8:c.1564T>C	ENSP00000339639.4:p.Ser522Pro
ENST00000536379.5:c.1471T>C	ENSP00000445079.1:p.Ser491Pro
ENST00000536980.5:c.*380T>C	ENSP00000444178.1:n.*380T>C
ENST00000537682.5:c.*380T>C	ENSP00000438611.1:n.*380T>C
ENST00000538326.5:c.*729T>C	ENSP00000437486.1:n.*729T>C
ENST00000539145.5:c.1025T>C	ENSP00000444471.1:n.1025T>C
ENST00000541159.5:c.1646T>C	ENSP00000438711.1:n.1646T>C
ENST00000542898.5:c.*380T>C	ENSP00000444615.1:n.*380T>C
ENST00000570511.5:c.1509T>C	ENSP00000458312.1:n.1509T>C
ENST00000572244.5:c.794T>C	ENSP00000461186.1:n.794T>C
ENST00000574583.5:c.876T>C	ENSP00000460269.1:n.876T>C
ENST00000576315.5:c.909T>C	ENSP00000460551.1:n.909T>C
ENST00000621655.1:c.1641T>C	ENSP00000481436.1:n.1641T>C
NM_000243.2:c.2104T>C , LRG_190t1:c.2104T>C	NP_000234.1:p.Ser702Pro
NM_001198536.1:c.*308T>C	NP_001185465.1:n.*308T>C
XM_017023236.2:c.2101T>C	XP_016878725.1:p.Ser701Pro
NM_000243.3:c.2104T>C MANE Select	NP_000234.1:p.Ser702Pro
NM_001198536.2:c.*308T>C	NP_001185465.2:n.*308T>C