Canonical Allele Identifier: CA394463587

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3297084C>G (hg19) ; chr16:g.3247084C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247084C>G , CM000678.2:g.3247084C>G	GRCh38
NC_000016.9:g.3297084C>G , CM000678.1:g.3297084C>G	GRCh37
NC_000016.8:g.3237085C>G	NCBI36
NG_007871.1:g.14544G>C , LRG_190:g.14544G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.1519G>C MANE Select	ENSP00000219596.1:p.Ala507Pro
ENST00000219596.5:c.1519G>C	ENSP00000219596.1:p.Ala507Pro
ENST00000339854.8:c.979G>C	ENSP00000339639.4:p.Ala327Pro
ENST00000536379.5:c.886G>C	ENSP00000445079.1:p.Ala296Pro
ENST00000536980.5:c.886G>C	ENSP00000444178.1:p.Ala296Pro
ENST00000537682.5:c.1519G>C	ENSP00000438611.1:p.Ala507Pro
ENST00000538326.5:c.*144G>C	ENSP00000437486.1:n.*144G>C
ENST00000539145.5:c.440G>C	ENSP00000444471.1:n.440G>C
ENST00000539154.1:n.884G>C
ENST00000541159.5:c.886G>C	ENSP00000438711.1:p.Ala296Pro
ENST00000542898.5:c.1612G>C	ENSP00000444615.1:p.Ala538Pro
ENST00000570511.5:c.1073G>C	ENSP00000458312.1:n.1073G>C
ENST00000572244.5:c.278-537G>C	ENSP00000461186.1:n.278-537G>C
ENST00000574583.5:c.440G>C	ENSP00000460269.1:n.440G>C
ENST00000576315.5:c.440G>C	ENSP00000460551.1:n.440G>C
ENST00000621655.1:c.886G>C	ENSP00000481436.1:p.Ala296Pro
NM_000243.2:c.1519G>C , LRG_190t1:c.1519G>C	NP_000234.1:p.Ala507Pro
NM_001198536.1:c.886G>C	NP_001185465.1:p.Ala296Pro
XM_017023236.2:c.1516G>C	XP_016878725.1:p.Ala506Pro
XR_001751903.1:n.1708G>C
NM_000243.3:c.1519G>C MANE Select	NP_000234.1:p.Ala507Pro
NM_001198536.2:c.886G>C	NP_001185465.2:p.Ala296Pro