Canonical Allele Identifier: CA394484514

Gene: MEFV

Linked Data

• dbSNP Id: rs1157270759
• gnomAD v2: 16-3293185-C-T
• gnomAD v4: 16-3243185-C-T
• MyVariant Identifiers: chr16:g.3293185C>T (hg19) ; chr16:g.3243185C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243185C>T , CM000678.2:g.3243185C>T	GRCh38
NC_000016.9:g.3293185C>T , CM000678.1:g.3293185C>T	GRCh37
NC_000016.8:g.3233186C>T	NCBI36
NG_007871.1:g.18443G>A , LRG_190:g.18443G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1423G>A
ENST00000219596.6:c.2302G>A MANE Select	ENSP00000219596.1:p.Ala768Thr
ENST00000219596.5:c.2302G>A	ENSP00000219596.1:p.Ala768Thr
ENST00000339854.8:c.1762G>A	ENSP00000339639.4:p.Ala588Thr
ENST00000536379.5:c.1669G>A	ENSP00000445079.1:p.Ala557Thr
ENST00000536980.5:c.*578G>A	ENSP00000444178.1:n.*578G>A
ENST00000537682.5:c.*578G>A	ENSP00000438611.1:n.*578G>A
ENST00000538326.5:c.*927G>A	ENSP00000437486.1:n.*927G>A
ENST00000539145.5:c.1223G>A	ENSP00000444471.1:n.1223G>A
ENST00000541159.5:c.1844G>A	ENSP00000438711.1:n.1844G>A
ENST00000542898.5:c.*578G>A	ENSP00000444615.1:n.*578G>A
ENST00000570511.5:c.1707G>A	ENSP00000458312.1:n.1707G>A
ENST00000572244.5:c.992G>A	ENSP00000461186.1:n.992G>A
ENST00000574583.5:c.1074G>A	ENSP00000460269.1:n.1074G>A
ENST00000576315.5:c.1107G>A	ENSP00000460551.1:n.1107G>A
ENST00000621655.1:c.1839G>A	ENSP00000481436.1:n.1839G>A
NM_000243.2:c.2302G>A , LRG_190t1:c.2302G>A	NP_000234.1:p.Ala768Thr
NM_001198536.1:c.*506G>A	NP_001185465.1:n.*506G>A
XM_017023236.2:c.2299G>A	XP_016878725.1:p.Ala767Thr
NM_000243.3:c.2302G>A MANE Select	NP_000234.1:p.Ala768Thr
NM_001198536.2:c.*506G>A	NP_001185465.2:n.*506G>A