Canonical Allele Identifier: CA394469613

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3299497G>C (hg19) ; chr16:g.3249497G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3249497G>C , CM000678.2:g.3249497G>C	GRCh38
NC_000016.9:g.3299497G>C , CM000678.1:g.3299497G>C	GRCh37
NC_000016.8:g.3239498G>C	NCBI36
NG_007871.1:g.12131C>G , LRG_190:g.12131C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.1194C>G MANE Select	ENSP00000219596.1:p.Cys398Trp
ENST00000219596.5:c.1194C>G	ENSP00000219596.1:p.Cys398Trp
ENST00000339854.8:c.654C>G	ENSP00000339639.4:p.Cys218Trp
ENST00000536379.5:c.561C>G	ENSP00000445079.1:p.Cys187Trp
ENST00000536980.5:c.561C>G	ENSP00000444178.1:p.Cys187Trp
ENST00000537682.5:c.1194C>G	ENSP00000438611.1:p.Cys398Trp
ENST00000538326.5:c.1194C>G	ENSP00000437486.1:p.Cys398Trp
ENST00000539145.5:c.278-2251C>G	ENSP00000444471.1:n.278-2251C>G
ENST00000541159.5:c.561C>G	ENSP00000438711.1:p.Cys187Trp
ENST00000542898.5:c.1287C>G	ENSP00000444615.1:p.Cys429Trp
ENST00000570511.5:c.911-2251C>G	ENSP00000458312.1:n.911-2251C>G
ENST00000572244.5:c.278-2950C>G	ENSP00000461186.1:n.278-2950C>G
ENST00000574583.5:c.278-2251C>G	ENSP00000460269.1:n.278-2251C>G
ENST00000576315.5:c.278-2251C>G	ENSP00000460551.1:n.278-2251C>G
ENST00000621655.1:c.561C>G	ENSP00000481436.1:p.Cys187Trp
NM_000243.2:c.1194C>G , LRG_190t1:c.1194C>G	NP_000234.1:p.Cys398Trp
NM_001198536.1:c.561C>G	NP_001185465.1:p.Cys187Trp
XM_017023236.2:c.1194C>G	XP_016878725.1:p.Cys398Trp
XR_001751903.1:n.1383C>G
NM_000243.3:c.1194C>G MANE Select	NP_000234.1:p.Cys398Trp
NM_001198536.2:c.561C>G	NP_001185465.2:p.Cys187Trp