Canonical Allele Identifier: CA493383593

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293279G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243279G>C , CM000678.2:g.3243279G>C	GRCh38
NC_000016.9:g.3293279G>C , CM000678.1:g.3293279G>C	GRCh37
NC_000016.8:g.3233280G>C	NCBI36
NG_007871.1:g.18349C>G , LRG_190:g.18349C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1329C>G
ENST00000219596.6:c.2208C>G MANE Select	ENSP00000219596.1:p.Ala736=
ENST00000219596.5:c.2208C>G	ENSP00000219596.1:p.Ala736=
ENST00000339854.8:c.1668C>G	ENSP00000339639.4:p.Ala556=
ENST00000536379.5:c.1575C>G	ENSP00000445079.1:p.Ala525=
ENST00000536980.5:c.*484C>G	ENSP00000444178.1:n.*484C>G
ENST00000537682.5:c.*484C>G	ENSP00000438611.1:n.*484C>G
ENST00000538326.5:c.*833C>G	ENSP00000437486.1:n.*833C>G
ENST00000539145.5:c.1129C>G	ENSP00000444471.1:n.1129C>G
ENST00000541159.5:c.1750C>G	ENSP00000438711.1:n.1750C>G
ENST00000542898.5:c.*484C>G	ENSP00000444615.1:n.*484C>G
ENST00000570511.5:c.1613C>G	ENSP00000458312.1:n.1613C>G
ENST00000572244.5:c.898C>G	ENSP00000461186.1:n.898C>G
ENST00000574583.5:c.980C>G	ENSP00000460269.1:n.980C>G
ENST00000576315.5:c.1013C>G	ENSP00000460551.1:n.1013C>G
ENST00000621655.1:c.1745C>G	ENSP00000481436.1:n.1745C>G
NM_000243.2:c.2208C>G , LRG_190t1:c.2208C>G	NP_000234.1:p.Ala736=
NM_001198536.1:c.*412C>G	NP_001185465.1:n.*412C>G
XM_017023236.2:c.2205C>G	XP_016878725.1:p.Ala735=
NM_000243.3:c.2208C>G MANE Select	NP_000234.1:p.Ala736=
NM_001198536.2:c.*412C>G	NP_001185465.2:n.*412C>G