Canonical Allele Identifier: CA394459098

Gene: MEFV

Linked Data

• dbSNP Id: rs1175758851
• gnomAD v3: 16-3244578-C-T
• gnomAD v4: 16-3244578-C-T
• MyVariant Identifiers: chr16:g.3294578C>T (hg19) ; chr16:g.3244578C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244578C>T , CM000678.2:g.3244578C>T	GRCh38
NC_000016.9:g.3294578C>T , CM000678.1:g.3294578C>T	GRCh37
NC_000016.8:g.3234579C>T	NCBI36
NG_007871.1:g.17050G>A , LRG_190:g.17050G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.742G>A
ENST00000219596.6:c.1621G>A MANE Select	ENSP00000219596.1:p.Val541Met
ENST00000219596.5:c.1621G>A	ENSP00000219596.1:p.Val541Met
ENST00000339854.8:c.1081G>A	ENSP00000339639.4:p.Val361Met
ENST00000536379.5:c.988G>A	ENSP00000445079.1:p.Val330Met
ENST00000536980.5:c.988G>A	ENSP00000444178.1:p.Val330Met
ENST00000537682.5:c.1621G>A	ENSP00000438611.1:p.Val541Met
ENST00000538326.5:c.*246G>A	ENSP00000437486.1:n.*246G>A
ENST00000539145.5:c.542G>A	ENSP00000444471.1:n.542G>A
ENST00000541159.5:c.988G>A	ENSP00000438711.1:p.Val330Met
ENST00000542898.5:c.1714G>A	ENSP00000444615.1:p.Val572Met
ENST00000570511.5:c.1165-686G>A	ENSP00000458312.1:n.1165-686G>A
ENST00000572244.5:c.311G>A	ENSP00000461186.1:n.311G>A
ENST00000574583.5:c.532-686G>A	ENSP00000460269.1:n.532-686G>A
ENST00000576315.5:c.532-292G>A	ENSP00000460551.1:n.532-292G>A
ENST00000621655.1:c.988G>A	ENSP00000481436.1:p.Val330Met
NM_000243.2:c.1621G>A , LRG_190t1:c.1621G>A	NP_000234.1:p.Val541Met
NM_001198536.1:c.988G>A	NP_001185465.1:p.Val330Met
XM_017023236.2:c.1618G>A	XP_016878725.1:p.Val540Met
XR_001751903.1:n.1810G>A
NM_000243.3:c.1621G>A MANE Select	NP_000234.1:p.Val541Met
NM_001198536.2:c.988G>A	NP_001185465.2:p.Val330Met