Canonical Allele Identifier: CA280485

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97478
• ClinVar RCV Id: RCV000083730 ; RCV000768022 ; RCV003126440 ; RCV003224142 ; RCV003126439
• dbSNP Id: rs104895087
• MyVariant Identifiers: chr16:g.3293463C>T (hg19) ; chr16:g.3243463C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243463C>T , CM000678.2:g.3243463C>T	GRCh38
NC_000016.9:g.3293463C>T , CM000678.1:g.3293463C>T	GRCh37
NC_000016.8:g.3233464C>T	NCBI36
NG_007871.1:g.18165G>A , LRG_190:g.18165G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1145G>A
ENST00000219596.6:c.2024G>A MANE Select	ENSP00000219596.1:p.Ser675Asn
ENST00000219596.5:c.2024G>A	ENSP00000219596.1:p.Ser675Asn
ENST00000339854.8:c.1484G>A	ENSP00000339639.4:p.Ser495Asn
ENST00000536379.5:c.1391G>A	ENSP00000445079.1:p.Ser464Asn
ENST00000536980.5:c.*300G>A	ENSP00000444178.1:n.*300G>A
ENST00000537682.5:c.*300G>A	ENSP00000438611.1:n.*300G>A
ENST00000538326.5:c.*649G>A	ENSP00000437486.1:n.*649G>A
ENST00000539145.5:c.945G>A	ENSP00000444471.1:n.945G>A
ENST00000541159.5:c.1566G>A	ENSP00000438711.1:n.1566G>A
ENST00000542898.5:c.*300G>A	ENSP00000444615.1:n.*300G>A
ENST00000570511.5:c.1429G>A	ENSP00000458312.1:n.1429G>A
ENST00000572244.5:c.714G>A	ENSP00000461186.1:n.714G>A
ENST00000574583.5:c.796G>A	ENSP00000460269.1:n.796G>A
ENST00000576315.5:c.829G>A	ENSP00000460551.1:n.829G>A
ENST00000621655.1:c.1561G>A	ENSP00000481436.1:n.1561G>A
NM_000243.2:c.2024G>A , LRG_190t1:c.2024G>A	NP_000234.1:p.Ser675Asn
NM_001198536.1:c.*228G>A	NP_001185465.1:n.*228G>A
XM_017023236.2:c.2021G>A	XP_016878725.1:p.Ser674Asn
NM_000243.3:c.2024G>A MANE Select	NP_000234.1:p.Ser675Asn
NM_001198536.2:c.*228G>A	NP_001185465.2:n.*228G>A