Canonical Allele Identifier: CA7860039

Gene: MEFV

Linked Data

• dbSNP Id: rs758820729
• ExAC: 16:3294521 G / A
• gnomAD v2: 16-3294521-G-A
• gnomAD v3: 16-3244521-G-A
• gnomAD v4: 16-3244521-G-A
• MyVariant Identifiers: chr16:g.3294521G>A (hg19) ; chr16:g.3244521G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244521G>A , CM000678.2:g.3244521G>A	GRCh38
NC_000016.9:g.3294521G>A , CM000678.1:g.3294521G>A	GRCh37
NC_000016.8:g.3234522G>A	NCBI36
NG_007871.1:g.17107C>T , LRG_190:g.17107C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.799C>T
ENST00000219596.6:c.1678C>T MANE Select	ENSP00000219596.1:p.Leu560Phe
ENST00000219596.5:c.1678C>T	ENSP00000219596.1:p.Leu560Phe
ENST00000339854.8:c.1138C>T	ENSP00000339639.4:p.Leu380Phe
ENST00000536379.5:c.1045C>T	ENSP00000445079.1:p.Leu349Phe
ENST00000536980.5:c.1045C>T	ENSP00000444178.1:p.Leu349Phe
ENST00000537682.5:c.1678C>T	ENSP00000438611.1:p.Leu560Phe
ENST00000538326.5:c.*303C>T	ENSP00000437486.1:n.*303C>T
ENST00000539145.5:c.599C>T	ENSP00000444471.1:n.599C>T
ENST00000541159.5:c.1045C>T	ENSP00000438711.1:p.Leu349Phe
ENST00000542898.5:c.1771C>T	ENSP00000444615.1:p.Leu591Phe
ENST00000570511.5:c.1165-629C>T	ENSP00000458312.1:n.1165-629C>T
ENST00000572244.5:c.368C>T	ENSP00000461186.1:n.368C>T
ENST00000574583.5:c.532-629C>T	ENSP00000460269.1:n.532-629C>T
ENST00000576315.5:c.532-235C>T	ENSP00000460551.1:n.532-235C>T
ENST00000621655.1:c.1045C>T	ENSP00000481436.1:p.Leu349Phe
NM_000243.2:c.1678C>T , LRG_190t1:c.1678C>T	NP_000234.1:p.Leu560Phe
NM_001198536.1:c.1045C>T	NP_001185465.1:p.Leu349Phe
XM_017023236.2:c.1675C>T	XP_016878725.1:p.Leu559Phe
XR_001751903.1:n.1867C>T
NM_000243.3:c.1678C>T MANE Select	NP_000234.1:p.Leu560Phe
NM_001198536.2:c.1045C>T	NP_001185465.2:p.Leu349Phe