Canonical Allele Identifier: CA10577519

Gene: MEFV

Linked Data

• ClinVar Variation Id: 234365
• ClinVar RCV Id: RCV000220209 ; RCV003605614
• dbSNP Id: rs28940580
• MyVariant Identifiers: chr16:g.3293447C>A (hg19) ; chr16:g.3243447C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243447C>A , CM000678.2:g.3243447C>A	GRCh38
NC_000016.9:g.3293447C>A , CM000678.1:g.3293447C>A	GRCh37
NC_000016.8:g.3233448C>A	NCBI36
NG_007871.1:g.18181G>T , LRG_190:g.18181G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1161G>T
ENST00000219596.6:c.2040G>T MANE Select	ENSP00000219596.1:p.Met680Ile
ENST00000219596.5:c.2040G>T	ENSP00000219596.1:p.Met680Ile
ENST00000339854.8:c.1500G>T	ENSP00000339639.4:p.Met500Ile
ENST00000536379.5:c.1407G>T	ENSP00000445079.1:p.Met469Ile
ENST00000536980.5:c.*316G>T	ENSP00000444178.1:n.*316G>T
ENST00000537682.5:c.*316G>T	ENSP00000438611.1:n.*316G>T
ENST00000538326.5:c.*665G>T	ENSP00000437486.1:n.*665G>T
ENST00000539145.5:c.961G>T	ENSP00000444471.1:n.961G>T
ENST00000541159.5:c.1582G>T	ENSP00000438711.1:n.1582G>T
ENST00000542898.5:c.*316G>T	ENSP00000444615.1:n.*316G>T
ENST00000570511.5:c.1445G>T	ENSP00000458312.1:n.1445G>T
ENST00000572244.5:c.730G>T	ENSP00000461186.1:n.730G>T
ENST00000574583.5:c.812G>T	ENSP00000460269.1:n.812G>T
ENST00000576315.5:c.845G>T	ENSP00000460551.1:n.845G>T
ENST00000621655.1:c.1577G>T	ENSP00000481436.1:n.1577G>T
NM_000243.2:c.2040G>T , LRG_190t1:c.2040G>T	NP_000234.1:p.Met680Ile
NM_001198536.1:c.*244G>T	NP_001185465.1:n.*244G>T
XM_017023236.2:c.2037G>T	XP_016878725.1:p.Met679Ile
NM_000243.3:c.2040G>T MANE Select	NP_000234.1:p.Met680Ile
NM_001198536.2:c.*244G>T	NP_001185465.2:n.*244G>T