Canonical Allele Identifier: CA394490380

Gene: MEFV

Linked Data

• gnomAD v4: 16-3244258-G-C
• MyVariant Identifiers: chr16:g.3294258G>C (hg19) ; chr16:g.3244258G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244258G>C , CM000678.2:g.3244258G>C	GRCh38
NC_000016.9:g.3294258G>C , CM000678.1:g.3294258G>C	GRCh37
NC_000016.8:g.3234259G>C	NCBI36
NG_007871.1:g.17370C>G , LRG_190:g.17370C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.876C>G
ENST00000219596.6:c.1755C>G MANE Select	ENSP00000219596.1:p.Phe585Leu
ENST00000219596.5:c.1755C>G	ENSP00000219596.1:p.Phe585Leu
ENST00000339854.8:c.1215C>G	ENSP00000339639.4:p.Phe405Leu
ENST00000536379.5:c.1122C>G	ENSP00000445079.1:p.Phe374Leu
ENST00000536980.5:c.1122C>G	ENSP00000444178.1:p.Phe374Leu
ENST00000537682.5:c.1755C>G	ENSP00000438611.1:p.Phe585Leu
ENST00000538326.5:c.*380C>G	ENSP00000437486.1:n.*380C>G
ENST00000539145.5:c.676C>G	ENSP00000444471.1:n.676C>G
ENST00000541159.5:c.1122C>G	ENSP00000438711.1:p.Phe374Leu
ENST00000542898.5:c.1848C>G	ENSP00000444615.1:p.Phe616Leu
ENST00000570511.5:c.1165-366C>G	ENSP00000458312.1:n.1165-366C>G
ENST00000572244.5:c.445C>G	ENSP00000461186.1:n.445C>G
ENST00000574583.5:c.532-366C>G	ENSP00000460269.1:n.532-366C>G
ENST00000576315.5:c.560C>G	ENSP00000460551.1:n.560C>G
ENST00000621655.1:c.1122C>G	ENSP00000481436.1:p.Phe374Leu
NM_000243.2:c.1755C>G , LRG_190t1:c.1755C>G	NP_000234.1:p.Phe585Leu
NM_001198536.1:c.1122C>G	NP_001185465.1:p.Phe374Leu
XM_017023236.2:c.1752C>G	XP_016878725.1:p.Phe584Leu
XR_001751903.1:n.1944C>G
NM_000243.3:c.1755C>G MANE Select	NP_000234.1:p.Phe585Leu
NM_001198536.2:c.1122C>G	NP_001185465.2:p.Phe374Leu