Canonical Allele Identifier: CA394485029

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243250-C-T
• MyVariant Identifiers: chr16:g.3293250C>T (hg19) ; chr16:g.3243250C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243250C>T , CM000678.2:g.3243250C>T	GRCh38
NC_000016.9:g.3293250C>T , CM000678.1:g.3293250C>T	GRCh37
NC_000016.8:g.3233251C>T	NCBI36
NG_007871.1:g.18378G>A , LRG_190:g.18378G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1358G>A
ENST00000219596.6:c.2237G>A MANE Select	ENSP00000219596.1:p.Cys746Tyr
ENST00000219596.5:c.2237G>A	ENSP00000219596.1:p.Cys746Tyr
ENST00000339854.8:c.1697G>A	ENSP00000339639.4:p.Cys566Tyr
ENST00000536379.5:c.1604G>A	ENSP00000445079.1:p.Cys535Tyr
ENST00000536980.5:c.*513G>A	ENSP00000444178.1:n.*513G>A
ENST00000537682.5:c.*513G>A	ENSP00000438611.1:n.*513G>A
ENST00000538326.5:c.*862G>A	ENSP00000437486.1:n.*862G>A
ENST00000539145.5:c.1158G>A	ENSP00000444471.1:n.1158G>A
ENST00000541159.5:c.1779G>A	ENSP00000438711.1:n.1779G>A
ENST00000542898.5:c.*513G>A	ENSP00000444615.1:n.*513G>A
ENST00000570511.5:c.1642G>A	ENSP00000458312.1:n.1642G>A
ENST00000572244.5:c.927G>A	ENSP00000461186.1:n.927G>A
ENST00000574583.5:c.1009G>A	ENSP00000460269.1:n.1009G>A
ENST00000576315.5:c.1042G>A	ENSP00000460551.1:n.1042G>A
ENST00000621655.1:c.1774G>A	ENSP00000481436.1:n.1774G>A
NM_000243.2:c.2237G>A , LRG_190t1:c.2237G>A	NP_000234.1:p.Cys746Tyr
NM_001198536.1:c.*441G>A	NP_001185465.1:n.*441G>A
XM_017023236.2:c.2234G>A	XP_016878725.1:p.Cys745Tyr
NM_000243.3:c.2237G>A MANE Select	NP_000234.1:p.Cys746Tyr
NM_001198536.2:c.*441G>A	NP_001185465.2:n.*441G>A