Canonical Allele Identifier: CA394485978

Gene: MEFV

Linked Data

• dbSNP Id: rs547379518
• gnomAD v2: 16-3293386-C-T
• gnomAD v4: 16-3243386-C-T
• MyVariant Identifiers: chr16:g.3293386C>T (hg19) ; chr16:g.3243386C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243386C>T , CM000678.2:g.3243386C>T	GRCh38
NC_000016.9:g.3293386C>T , CM000678.1:g.3293386C>T	GRCh37
NC_000016.8:g.3233387C>T	NCBI36
NG_007871.1:g.18242G>A , LRG_190:g.18242G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1222G>A
ENST00000219596.6:c.2101G>A MANE Select	ENSP00000219596.1:p.Ala701Thr
ENST00000219596.5:c.2101G>A	ENSP00000219596.1:p.Ala701Thr
ENST00000339854.8:c.1561G>A	ENSP00000339639.4:p.Ala521Thr
ENST00000536379.5:c.1468G>A	ENSP00000445079.1:p.Ala490Thr
ENST00000536980.5:c.*377G>A	ENSP00000444178.1:n.*377G>A
ENST00000537682.5:c.*377G>A	ENSP00000438611.1:n.*377G>A
ENST00000538326.5:c.*726G>A	ENSP00000437486.1:n.*726G>A
ENST00000539145.5:c.1022G>A	ENSP00000444471.1:n.1022G>A
ENST00000541159.5:c.1643G>A	ENSP00000438711.1:n.1643G>A
ENST00000542898.5:c.*377G>A	ENSP00000444615.1:n.*377G>A
ENST00000570511.5:c.1506G>A	ENSP00000458312.1:n.1506G>A
ENST00000572244.5:c.791G>A	ENSP00000461186.1:n.791G>A
ENST00000574583.5:c.873G>A	ENSP00000460269.1:n.873G>A
ENST00000576315.5:c.906G>A	ENSP00000460551.1:n.906G>A
ENST00000621655.1:c.1638G>A	ENSP00000481436.1:n.1638G>A
NM_000243.2:c.2101G>A , LRG_190t1:c.2101G>A	NP_000234.1:p.Ala701Thr
NM_001198536.1:c.*305G>A	NP_001185465.1:n.*305G>A
XM_017023236.2:c.2098G>A	XP_016878725.1:p.Ala700Thr
NM_000243.3:c.2101G>A MANE Select	NP_000234.1:p.Ala701Thr
NM_001198536.2:c.*305G>A	NP_001185465.2:n.*305G>A