Canonical Allele Identifier: CA394486473

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293439G>C (hg19) ; chr16:g.3243439G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243439G>C , CM000678.2:g.3243439G>C	GRCh38
NC_000016.9:g.3293439G>C , CM000678.1:g.3293439G>C	GRCh37
NC_000016.8:g.3233440G>C	NCBI36
NG_007871.1:g.18189C>G , LRG_190:g.18189C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1169C>G
ENST00000219596.6:c.2048C>G MANE Select	ENSP00000219596.1:p.Ser683Trp
ENST00000219596.5:c.2048C>G	ENSP00000219596.1:p.Ser683Trp
ENST00000339854.8:c.1508C>G	ENSP00000339639.4:p.Ser503Trp
ENST00000536379.5:c.1415C>G	ENSP00000445079.1:p.Ser472Trp
ENST00000536980.5:c.*324C>G	ENSP00000444178.1:n.*324C>G
ENST00000537682.5:c.*324C>G	ENSP00000438611.1:n.*324C>G
ENST00000538326.5:c.*673C>G	ENSP00000437486.1:n.*673C>G
ENST00000539145.5:c.969C>G	ENSP00000444471.1:n.969C>G
ENST00000541159.5:c.1590C>G	ENSP00000438711.1:n.1590C>G
ENST00000542898.5:c.*324C>G	ENSP00000444615.1:n.*324C>G
ENST00000570511.5:c.1453C>G	ENSP00000458312.1:n.1453C>G
ENST00000572244.5:c.738C>G	ENSP00000461186.1:n.738C>G
ENST00000574583.5:c.820C>G	ENSP00000460269.1:n.820C>G
ENST00000576315.5:c.853C>G	ENSP00000460551.1:n.853C>G
ENST00000621655.1:c.1585C>G	ENSP00000481436.1:n.1585C>G
NM_000243.2:c.2048C>G , LRG_190t1:c.2048C>G	NP_000234.1:p.Ser683Trp
NM_001198536.1:c.*252C>G	NP_001185465.1:n.*252C>G
XM_017023236.2:c.2045C>G	XP_016878725.1:p.Ser682Trp
NM_000243.3:c.2048C>G MANE Select	NP_000234.1:p.Ser683Trp
NM_001198536.2:c.*252C>G	NP_001185465.2:n.*252C>G