Canonical Allele Identifier: CA394485998

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243389-G-T
• MyVariant Identifiers: chr16:g.3293389G>T (hg19) ; chr16:g.3243389G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243389G>T , CM000678.2:g.3243389G>T	GRCh38
NC_000016.9:g.3293389G>T , CM000678.1:g.3293389G>T	GRCh37
NC_000016.8:g.3233390G>T	NCBI36
NG_007871.1:g.18239C>A , LRG_190:g.18239C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1219C>A
ENST00000219596.6:c.2098C>A MANE Select	ENSP00000219596.1:p.Gln700Lys
ENST00000219596.5:c.2098C>A	ENSP00000219596.1:p.Gln700Lys
ENST00000339854.8:c.1558C>A	ENSP00000339639.4:p.Gln520Lys
ENST00000536379.5:c.1465C>A	ENSP00000445079.1:p.Gln489Lys
ENST00000536980.5:c.*374C>A	ENSP00000444178.1:n.*374C>A
ENST00000537682.5:c.*374C>A	ENSP00000438611.1:n.*374C>A
ENST00000538326.5:c.*723C>A	ENSP00000437486.1:n.*723C>A
ENST00000539145.5:c.1019C>A	ENSP00000444471.1:n.1019C>A
ENST00000541159.5:c.1640C>A	ENSP00000438711.1:n.1640C>A
ENST00000542898.5:c.*374C>A	ENSP00000444615.1:n.*374C>A
ENST00000570511.5:c.1503C>A	ENSP00000458312.1:n.1503C>A
ENST00000572244.5:c.788C>A	ENSP00000461186.1:n.788C>A
ENST00000574583.5:c.870C>A	ENSP00000460269.1:n.870C>A
ENST00000576315.5:c.903C>A	ENSP00000460551.1:n.903C>A
ENST00000621655.1:c.1635C>A	ENSP00000481436.1:n.1635C>A
NM_000243.2:c.2098C>A , LRG_190t1:c.2098C>A	NP_000234.1:p.Gln700Lys
NM_001198536.1:c.*302C>A	NP_001185465.1:n.*302C>A
XM_017023236.2:c.2095C>A	XP_016878725.1:p.Gln699Lys
NM_000243.3:c.2098C>A MANE Select	NP_000234.1:p.Gln700Lys
NM_001198536.2:c.*302C>A	NP_001185465.2:n.*302C>A