Canonical Allele Identifier: CA394463576

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3297083G>T (hg19) ; chr16:g.3247083G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247083G>T , CM000678.2:g.3247083G>T	GRCh38
NC_000016.9:g.3297083G>T , CM000678.1:g.3297083G>T	GRCh37
NC_000016.8:g.3237084G>T	NCBI36
NG_007871.1:g.14545C>A , LRG_190:g.14545C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.1520C>A MANE Select	ENSP00000219596.1:p.Ala507Asp
ENST00000219596.5:c.1520C>A	ENSP00000219596.1:p.Ala507Asp
ENST00000339854.8:c.980C>A	ENSP00000339639.4:p.Ala327Asp
ENST00000536379.5:c.887C>A	ENSP00000445079.1:p.Ala296Asp
ENST00000536980.5:c.887C>A	ENSP00000444178.1:p.Ala296Asp
ENST00000537682.5:c.1520C>A	ENSP00000438611.1:p.Ala507Asp
ENST00000538326.5:c.*145C>A	ENSP00000437486.1:n.*145C>A
ENST00000539145.5:c.441C>A	ENSP00000444471.1:n.441C>A
ENST00000539154.1:n.885C>A
ENST00000541159.5:c.887C>A	ENSP00000438711.1:p.Ala296Asp
ENST00000542898.5:c.1613C>A	ENSP00000444615.1:p.Ala538Asp
ENST00000570511.5:c.1074C>A	ENSP00000458312.1:n.1074C>A
ENST00000572244.5:c.278-536C>A	ENSP00000461186.1:n.278-536C>A
ENST00000574583.5:c.441C>A	ENSP00000460269.1:n.441C>A
ENST00000576315.5:c.441C>A	ENSP00000460551.1:n.441C>A
ENST00000621655.1:c.887C>A	ENSP00000481436.1:p.Ala296Asp
NM_000243.2:c.1520C>A , LRG_190t1:c.1520C>A	NP_000234.1:p.Ala507Asp
NM_001198536.1:c.887C>A	NP_001185465.1:p.Ala296Asp
XM_017023236.2:c.1517C>A	XP_016878725.1:p.Ala506Asp
XR_001751903.1:n.1709C>A
NM_000243.3:c.1520C>A MANE Select	NP_000234.1:p.Ala507Asp
NM_001198536.2:c.887C>A	NP_001185465.2:p.Ala296Asp